Canonical Allele Identifier: CA412867060

Gene: WAS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48685592T>C , CM000685.2:g.48685592T>C	GRCh38
NC_000023.10:g.48543981T>C , CM000685.1:g.48543981T>C	GRCh37
NC_000023.9:g.48428925T>C	NCBI36
NG_007877.1:g.6796T>C , LRG_125:g.6796T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000377.3:c.319T>C MANE Select	NP_000368.1:p.Tyr107His
ENST00000376701.5:c.319T>C MANE Select	ENSP00000365891.4:p.Tyr107His
NM_000377.2:c.319T>C , LRG_125t1:c.319T>C	NP_000368.1:p.Tyr107His
ENST00000376701.4:c.319T>C	ENSP00000365891.4:p.Tyr107His
ENST00000450772.5:c.319T>C	ENSP00000410537.1:p.Tyr107His
ENST00000465982.5:n.354T>C
ENST00000483750.5:n.345T>C
ENST00000483750.6:n.352T>C
ENST00000698625.1:c.319T>C	ENSP00000513844.1:p.Tyr107His
ENST00000698626.1:c.319T>C	ENSP00000513845.1:p.Tyr107His
ENST00000698635.1:c.319T>C	ENSP00000513850.1:p.Tyr107His
XM_011543977.1:c.319T>C	XP_011542279.1:p.Tyr107His
XM_011543977.2:c.319T>C	XP_011542279.1:p.Tyr107His
XM_017029786.1:c.319T>C	XP_016885275.1:p.Tyr107His