Canonical Allele Identifier: CA642418922

Gene:

Linked Data

• ClinVar Variation Id: 2660795
• ClinVar RCV Id: RCV003438468
• dbSNP Id: rs1312714492
• gnomAD v2: X-68300766-C-T
• gnomAD v3: X-69080923-C-T
• gnomAD v4: X-69080923-C-T
• MyVariant Identifiers: chrX:g.68300766C>T (hg19) ; chrX:g.69080923C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69080923C>T , CM000685.2:g.69080923C>T	GRCh38
NC_000023.10:g.68300766C>T , CM000685.1:g.68300766C>T	GRCh37
NC_000023.9:g.68217491C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011531078.1:c.674G>A	XP_011529380.1:p.Arg225His
XM_011531079.1:c.623G>A	XP_011529381.1:p.Arg208His
XM_011531080.1:c.419+255G>A	XP_011529382.1:n.419+255G>A
XR_938424.1:n.699-8G>A
XM_011531078.2:c.674G>A	XP_011529380.1:p.Arg225His
XM_011531079.2:c.623G>A	XP_011529381.1:p.Arg208His
XM_017030008.1:c.674G>A	XP_016885497.1:p.Arg225His
XM_017030009.1:c.674G>A	XP_016885498.1:p.Arg225His
XR_001755875.1:n.1574-8G>A
XR_001755876.1:n.1573+502G>A
XR_005647088.1:n.2075G>A
XR_005647089.1:n.2112G>A
XR_005647090.1:n.1895G>A
XR_005647091.1:n.1446G>A