Canonical Allele Identifier: CA2428355806
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48689042C= , CM000685.2:g.48689042C= GRCh38
NC_000023.10:g.48547431C= , CM000685.1:g.48547431C= GRCh37
NC_000023.9:g.48432375C= NCBI36
NG_007877.1:g.10246C= , LRG_125:g.10246C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.558C=
ENST00000698625.1:c.1314C= ENSP00000513844.1:p.Ile438=
ENST00000698626.1:c.1314C= ENSP00000513845.1:p.Ile438=
ENST00000698635.1:c.1314C= ENSP00000513850.1:p.Ile438=
ENST00000376701.5:c.1314C= MANE Select ENSP00000365891.4:p.Ile438=
ENST00000376701.4:c.1314C= ENSP00000365891.4:p.Ile438=
ENST00000470107.1:n.23C=
NM_000377.2:c.1314C= , LRG_125t1:c.1314C= NP_000368.1:p.Ile438=
XM_011543977.1:c.1158C= XP_011542279.1:p.Ile386=
XM_011543977.2:c.1158C= XP_011542279.1:p.Ile386=
XM_017029786.1:c.1314C= XP_016885275.1:p.Ile438=
NM_000377.3:c.1314C= MANE Select NP_000368.1:p.Ile438=