Canonical Allele Identifier: CA412872872

Gene: WAS

Linked Data

• ClinVar Variation Id: 1450023
• ClinVar RCV Id: RCV001989933 ; RCV002563576
• dbSNP Id: rs2147266334
• gnomAD v4: X-48688719-A-T
• MyVariant Identifiers: chrX:g.48547108A>T (hg19) ; chrX:g.48688719A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688719A>T , CM000685.2:g.48688719A>T	GRCh38
NC_000023.10:g.48547108A>T , CM000685.1:g.48547108A>T	GRCh37
NC_000023.9:g.48432052A>T	NCBI36
NG_007877.1:g.9923A>T , LRG_125:g.9923A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.235A>T
ENST00000698625.1:c.991A>T	ENSP00000513844.1:p.Ile331Phe
ENST00000698626.1:c.991A>T	ENSP00000513845.1:p.Ile331Phe
ENST00000698635.1:c.991A>T	ENSP00000513850.1:p.Ile331Phe
ENST00000376701.5:c.991A>T MANE Select	ENSP00000365891.4:p.Ile331Phe
ENST00000376701.4:c.991A>T	ENSP00000365891.4:p.Ile331Phe
ENST00000474174.1:n.235A>T
NM_000377.2:c.991A>T , LRG_125t1:c.991A>T	NP_000368.1:p.Ile331Phe
XM_011543977.1:c.932-97A>T	XP_011542279.1:n.932-97A>T
XM_011543977.2:c.932-97A>T	XP_011542279.1:n.932-97A>T
XM_017029786.1:c.991A>T	XP_016885275.1:p.Ile331Phe
NM_000377.3:c.991A>T MANE Select	NP_000368.1:p.Ile331Phe