Canonical Allele Identifier: CA2428355803
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48689032T= , CM000685.2:g.48689032T= GRCh38
NC_000023.10:g.48547421T= , CM000685.1:g.48547421T= GRCh37
NC_000023.9:g.48432365T= NCBI36
NG_007877.1:g.10236T= , LRG_125:g.10236T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.548T=
ENST00000698625.1:c.1304T= ENSP00000513844.1:p.Leu435=
ENST00000698626.1:c.1304T= ENSP00000513845.1:p.Leu435=
ENST00000698635.1:c.1304T= ENSP00000513850.1:p.Leu435=
ENST00000376701.5:c.1304T= MANE Select ENSP00000365891.4:p.Leu435=
ENST00000376701.4:c.1304T= ENSP00000365891.4:p.Leu435=
ENST00000470107.1:n.13T=
NM_000377.2:c.1304T= , LRG_125t1:c.1304T= NP_000368.1:p.Leu435=
XM_011543977.1:c.1148T= XP_011542279.1:p.Leu383=
XM_011543977.2:c.1148T= XP_011542279.1:p.Leu383=
XM_017029786.1:c.1304T= XP_016885275.1:p.Leu435=
NM_000377.3:c.1304T= MANE Select NP_000368.1:p.Leu435=