Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs869312149
- Species
- Homo sapiens
- Symbol
- rs869312149
- Category
- Variant
- Variant type
- SNP
- Overlaps
- GLA
- Location
- X:101400667
- Nucleotide Change
- T>C
- Most Severe Consequence
- See all consequences
- missense variant&splice region variant
- HGVS.g name
- (GRCh38)X:101400667T>C
- HGVS.c name
- ENSEMBL:ENST00000218516.4:c.638A>G
- ENSEMBL:ENST00000409170.3:c.300+5210T>C
- HGVS.p name
- ENSP00000218516:p.Lys213Arg
- ENSP00000498186:p.Lys254Arg
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- ChrX:101393273...101408012 (14.74 kb)
- Assembly version
- Not Available
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