Canonical Allele Identifier: CA412873631

Gene: WAS

Linked Data

• gnomAD v4: X-48689005-C-A
• MyVariant Identifiers: chrX:g.48547394C>A (hg19) ; chrX:g.48689005C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48689005C>A , CM000685.2:g.48689005C>A	GRCh38
NC_000023.10:g.48547394C>A , CM000685.1:g.48547394C>A	GRCh37
NC_000023.9:g.48432338C>A	NCBI36
NG_007877.1:g.10209C>A , LRG_125:g.10209C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.521C>A
ENST00000698625.1:c.1277C>A	ENSP00000513844.1:p.Ala426Asp
ENST00000698626.1:c.1277C>A	ENSP00000513845.1:p.Ala426Asp
ENST00000698635.1:c.1277C>A	ENSP00000513850.1:p.Ala426Asp
ENST00000376701.5:c.1277C>A MANE Select	ENSP00000365891.4:p.Ala426Asp
ENST00000376701.4:c.1277C>A	ENSP00000365891.4:p.Ala426Asp
NM_000377.2:c.1277C>A , LRG_125t1:c.1277C>A	NP_000368.1:p.Ala426Asp
XM_011543977.1:c.1121C>A	XP_011542279.1:p.Ala374Asp
XM_011543977.2:c.1121C>A	XP_011542279.1:p.Ala374Asp
XM_017029786.1:c.1277C>A	XP_016885275.1:p.Ala426Asp
NM_000377.3:c.1277C>A MANE Select	NP_000368.1:p.Ala426Asp