Canonical Allele Identifier: CA412872131
Gene: WAS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688095A>T , CM000685.2:g.48688095A>T GRCh38
NC_000023.10:g.48546484A>T , CM000685.1:g.48546484A>T GRCh37
NC_000023.9:g.48431428A>T NCBI36
NG_007877.1:g.9299A>T , LRG_125:g.9299A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000483750.6:n.809A>T
ENST00000490627.2:n.213A>T
ENST00000698625.1:c.776A>T ENSP00000513844.1:p.Asp259Val
ENST00000698626.1:c.776A>T ENSP00000513845.1:p.Asp259Val
ENST00000698635.1:c.776A>T ENSP00000513850.1:p.Asp259Val
ENST00000376701.5:c.776A>T MANE Select ENSP00000365891.4:p.Asp259Val
ENST00000376701.4:c.776A>T ENSP00000365891.4:p.Asp259Val
ENST00000465982.5:n.676A>T
ENST00000483750.5:n.802A>T
ENST00000490627.1:n.196A>T
NM_000377.2:c.776A>T , LRG_125t1:c.776A>T NP_000368.1:p.Asp259Val
XM_011543977.1:c.776A>T XP_011542279.1:p.Asp259Val
XM_011543977.2:c.776A>T XP_011542279.1:p.Asp259Val
XM_017029786.1:c.776A>T XP_016885275.1:p.Asp259Val
NM_000377.3:c.776A>T MANE Select NP_000368.1:p.Asp259Val