Canonical Allele Identifier: CA2428355458
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688066C= , CM000685.2:g.48688066C= GRCh38
NC_000023.10:g.48546455C= , CM000685.1:g.48546455C= GRCh37
NC_000023.9:g.48431399C= NCBI36
NG_007877.1:g.9270C= , LRG_125:g.9270C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000483750.6:n.780C=
ENST00000490627.2:n.184C=
ENST00000698625.1:c.747C= ENSP00000513844.1:p.His249=
ENST00000698626.1:c.747C= ENSP00000513845.1:p.His249=
ENST00000698635.1:c.747C= ENSP00000513850.1:p.His249=
ENST00000376701.5:c.747C= MANE Select ENSP00000365891.4:p.His249=
ENST00000376701.4:c.747C= ENSP00000365891.4:p.His249=
ENST00000465982.5:n.647C=
ENST00000483750.5:n.773C=
ENST00000490627.1:n.167C=
NM_000377.2:c.747C= , LRG_125t1:c.747C= NP_000368.1:p.His249=
XM_011543977.1:c.747C= XP_011542279.1:p.His249=
XM_011543977.2:c.747C= XP_011542279.1:p.His249=
XM_017029786.1:c.747C= XP_016885275.1:p.His249=
NM_000377.3:c.747C= MANE Select NP_000368.1:p.His249=