Canonical Allele Identifier: CA2693643248

Gene: WAS

Linked Data

• dbSNP Id: rs2147267145
• gnomAD v4: X-48689191-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48689191G>A , CM000685.2:g.48689191G>A	GRCh38
NC_000023.10:g.48547580G>A , CM000685.1:g.48547580G>A	GRCh37
NC_000023.9:g.48432524G>A	NCBI36
NG_007877.1:g.10395G>A , LRG_125:g.10395G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.582+125G>A
ENST00000698625.1:c.1338+125G>A	ENSP00000513844.1:n.1338+125G>A
ENST00000698626.1:c.1338+125G>A	ENSP00000513845.1:n.1338+125G>A
ENST00000698635.1:c.1338+125G>A	ENSP00000513850.1:n.1338+125G>A
ENST00000376701.5:c.1338+125G>A MANE Select	ENSP00000365891.4:n.1338+125G>A
ENST00000376701.4:c.1338+125G>A	ENSP00000365891.4:n.1338+125G>A
ENST00000470107.1:n.47+125G>A
NM_000377.2:c.1338+125G>A , LRG_125t1:c.1338+125G>A	NP_000368.1:n.1338+125G>A
XM_011543977.1:c.1182+125G>A	XP_011542279.1:n.1182+125G>A
XM_011543977.2:c.1182+125G>A	XP_011542279.1:n.1182+125G>A
XM_017029786.1:c.1338+125G>A	XP_016885275.1:n.1338+125G>A
NM_000377.3:c.1338+125G>A MANE Select	NP_000368.1:n.1338+125G>A