Canonical Allele Identifier: CA516023593

Gene: WAS

Linked Data

• MyVariant Identifiers: chrX:g.48546458G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688069G>C , CM000685.2:g.48688069G>C	GRCh38
NC_000023.10:g.48546458G>C , CM000685.1:g.48546458G>C	GRCh37
NC_000023.9:g.48431402G>C	NCBI36
NG_007877.1:g.9273G>C , LRG_125:g.9273G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000483750.6:n.783G>C
ENST00000490627.2:n.187G>C
ENST00000698625.1:c.750G>C	ENSP00000513844.1:p.Val250=
ENST00000698626.1:c.750G>C	ENSP00000513845.1:p.Val250=
ENST00000698635.1:c.750G>C	ENSP00000513850.1:p.Val250=
ENST00000376701.5:c.750G>C MANE Select	ENSP00000365891.4:p.Val250=
ENST00000376701.4:c.750G>C	ENSP00000365891.4:p.Val250=
ENST00000465982.5:n.650G>C
ENST00000483750.5:n.776G>C
ENST00000490627.1:n.170G>C
NM_000377.2:c.750G>C , LRG_125t1:c.750G>C	NP_000368.1:p.Val250=
XM_011543977.1:c.750G>C	XP_011542279.1:p.Val250=
XM_011543977.2:c.750G>C	XP_011542279.1:p.Val250=
XM_017029786.1:c.750G>C	XP_016885275.1:p.Val250=
NM_000377.3:c.750G>C MANE Select	NP_000368.1:p.Val250=