Canonical Allele Identifier: CA2428355801
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48689028C= , CM000685.2:g.48689028C= GRCh38
NC_000023.10:g.48547417C= , CM000685.1:g.48547417C= GRCh37
NC_000023.9:g.48432361C= NCBI36
NG_007877.1:g.10232C= , LRG_125:g.10232C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.544C=
ENST00000698625.1:c.1300C= ENSP00000513844.1:p.Leu434=
ENST00000698626.1:c.1300C= ENSP00000513845.1:p.Leu434=
ENST00000698635.1:c.1300C= ENSP00000513850.1:p.Leu434=
ENST00000376701.5:c.1300C= MANE Select ENSP00000365891.4:p.Leu434=
ENST00000376701.4:c.1300C= ENSP00000365891.4:p.Leu434=
ENST00000470107.1:n.9C=
NM_000377.2:c.1300C= , LRG_125t1:c.1300C= NP_000368.1:p.Leu434=
XM_011543977.1:c.1144C= XP_011542279.1:p.Leu382=
XM_011543977.2:c.1144C= XP_011542279.1:p.Leu382=
XM_017029786.1:c.1300C= XP_016885275.1:p.Leu434=
NM_000377.3:c.1300C= MANE Select NP_000368.1:p.Leu434=