Canonical Allele Identifier: CA327916097

Gene:

Linked Data

• dbSNP Id: rs5963409
• gnomAD v2: X-38210969-A-G
• gnomAD v3: X-38351716-A-G
• gnomAD v4: X-38351716-A-G
• MyVariant Identifiers: chrX:g.38210969A>G (hg19) ; chrX:g.38351716A>G (hg38)

Genomic Alleles

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

Transcript Alleles

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