Canonical Allele Identifier: CA2520403586

Gene: WAS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688129A>C , CM000685.2:g.48688129A>C	GRCh38
NC_000023.10:g.48546518A>C , CM000685.1:g.48546518A>C	GRCh37
NC_000023.9:g.48431462A>C	NCBI36
NG_007877.1:g.9333A>C , LRG_125:g.9333A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.843A>C
ENST00000490627.2:n.247A>C
ENST00000698625.1:c.777+33A>C	ENSP00000513844.1:n.777+33A>C
ENST00000698626.1:c.777+33A>C	ENSP00000513845.1:n.777+33A>C
ENST00000698635.1:c.777+33A>C	ENSP00000513850.1:n.777+33A>C
ENST00000376701.5:c.777+33A>C MANE Select	ENSP00000365891.4:n.777+33A>C
ENST00000376701.4:c.777+33A>C	ENSP00000365891.4:n.777+33A>C
ENST00000465982.5:n.710A>C
ENST00000483750.5:n.836A>C
ENST00000490627.1:n.230A>C
NM_000377.2:c.777+33A>C , LRG_125t1:c.777+33A>C	NP_000368.1:n.777+33A>C
XM_011543977.1:c.777+33A>C	XP_011542279.1:n.777+33A>C
XM_011543977.2:c.777+33A>C	XP_011542279.1:n.777+33A>C
XM_017029786.1:c.777+33A>C	XP_016885275.1:n.777+33A>C
NM_000377.3:c.777+33A>C MANE Select	NP_000368.1:n.777+33A>C