Canonical Allele Identifier: CA10403963

Gene: WAS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48686859G>A , CM000685.2:g.48686859G>A	GRCh38
NC_000023.10:g.48545248G>A , CM000685.1:g.48545248G>A	GRCh37
NC_000023.9:g.48430192G>A	NCBI36
NG_007877.1:g.8063G>A , LRG_125:g.8063G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000377.3:c.638G>A MANE Select	NP_000368.1:p.Arg213His
ENST00000376701.5:c.638G>A MANE Select	ENSP00000365891.4:p.Arg213His
NM_000377.2:c.638G>A , LRG_125t1:c.638G>A	NP_000368.1:p.Arg213His
ENST00000376701.4:c.638G>A	ENSP00000365891.4:p.Arg213His
ENST00000450772.5:c.638G>A	ENSP00000410537.1:p.Arg213His
ENST00000465982.5:n.538G>A
ENST00000483750.5:n.664G>A
ENST00000483750.6:n.671G>A
ENST00000490627.1:n.154+725G>A
ENST00000490627.2:n.171+725G>A
ENST00000698625.1:c.638G>A	ENSP00000513844.1:p.Arg213His
ENST00000698626.1:c.638G>A	ENSP00000513845.1:p.Arg213His
ENST00000698635.1:c.638G>A	ENSP00000513850.1:p.Arg213His
XM_011543977.1:c.638G>A	XP_011542279.1:p.Arg213His
XM_011543977.2:c.638G>A	XP_011542279.1:p.Arg213His
XM_017029786.1:c.638G>A	XP_016885275.1:p.Arg213His