Canonical Allele Identifier: CA2428355675
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688788C= , CM000685.2:g.48688788C= GRCh38
NC_000023.10:g.48547177C= , CM000685.1:g.48547177C= GRCh37
NC_000023.9:g.48432121C= NCBI36
NG_007877.1:g.9992C= , LRG_125:g.9992C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.304C=
ENST00000698625.1:c.1060C= ENSP00000513844.1:p.Pro354=
ENST00000698626.1:c.1060C= ENSP00000513845.1:p.Pro354=
ENST00000698635.1:c.1060C= ENSP00000513850.1:p.Pro354=
ENST00000376701.5:c.1060C= MANE Select ENSP00000365891.4:p.Pro354=
ENST00000376701.4:c.1060C= ENSP00000365891.4:p.Pro354=
ENST00000474174.1:n.304C=
NM_000377.2:c.1060C= , LRG_125t1:c.1060C= NP_000368.1:p.Pro354=
XM_011543977.1:c.932-28C= XP_011542279.1:n.932-28C=
XM_011543977.2:c.932-28C= XP_011542279.1:n.932-28C=
XM_017029786.1:c.1060C= XP_016885275.1:p.Pro354=
NM_000377.3:c.1060C= MANE Select NP_000368.1:p.Pro354=