Canonical Allele Identifier: CA2428355524
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688311C= , CM000685.2:g.48688311C= GRCh38
NC_000023.10:g.48546700C= , CM000685.1:g.48546700C= GRCh37
NC_000023.9:g.48431644C= NCBI36
NG_007877.1:g.9515C= , LRG_125:g.9515C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.33C=
ENST00000483750.6:n.1025C=
ENST00000698625.1:c.789C= ENSP00000513844.1:p.Leu263=
ENST00000698626.1:c.789C= ENSP00000513845.1:p.Leu263=
ENST00000698635.1:c.789C= ENSP00000513850.1:p.Leu263=
ENST00000376701.5:c.789C= MANE Select ENSP00000365891.4:p.Leu263=
ENST00000376701.4:c.789C= ENSP00000365891.4:p.Leu263=
ENST00000474174.1:n.33C=
NM_000377.2:c.789C= , LRG_125t1:c.789C= NP_000368.1:p.Leu263=
XM_011543977.1:c.789C= XP_011542279.1:p.Leu263=
XM_011543977.2:c.789C= XP_011542279.1:p.Leu263=
XM_017029786.1:c.789C= XP_016885275.1:p.Leu263=
NM_000377.3:c.789C= MANE Select NP_000368.1:p.Leu263=