Canonical Allele Identifier: CA875166118

Gene:

Linked Data

• dbSNP Id: rs5963409
• gnomAD v3: X-38351716-A-C
• gnomAD v4: X-38351716-A-C
• MyVariant Identifiers: chrX:g.38210969A>C (hg19) ; chrX:g.38351716A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38351716A>C , CM000685.2:g.38351716A>C	GRCh38
NC_000023.10:g.38210969A>C , CM000685.1:g.38210969A>C	GRCh37
NC_000023.9:g.38095913A>C	NCBI36
NG_008471.1:g.4234A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465127.1:c.172-314405A>C	ENSP00000417050.1:n.172-314405A>C