Canonical Allele Identifier: CA10403959

Gene: WAS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48686814C>T , CM000685.2:g.48686814C>T	GRCh38
NC_000023.10:g.48545203C>T , CM000685.1:g.48545203C>T	GRCh37
NC_000023.9:g.48430147C>T	NCBI36
NG_007877.1:g.8018C>T , LRG_125:g.8018C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000377.3:c.593C>T MANE Select	NP_000368.1:p.Ala198Val
ENST00000376701.5:c.593C>T MANE Select	ENSP00000365891.4:p.Ala198Val
NM_000377.2:c.593C>T , LRG_125t1:c.593C>T	NP_000368.1:p.Ala198Val
ENST00000376701.4:c.593C>T	ENSP00000365891.4:p.Ala198Val
ENST00000450772.5:c.593C>T	ENSP00000410537.1:p.Ala198Val
ENST00000465982.5:n.499-6C>T
ENST00000483750.5:n.619C>T
ENST00000483750.6:n.626C>T
ENST00000490627.1:n.154+680C>T
ENST00000490627.2:n.171+680C>T
ENST00000698625.1:c.593C>T	ENSP00000513844.1:p.Ala198Val
ENST00000698626.1:c.593C>T	ENSP00000513845.1:p.Ala198Val
ENST00000698635.1:c.593C>T	ENSP00000513850.1:p.Ala198Val
XM_011543977.1:c.593C>T	XP_011542279.1:p.Ala198Val
XM_011543977.2:c.593C>T	XP_011542279.1:p.Ala198Val
XM_017029786.1:c.593C>T	XP_016885275.1:p.Ala198Val