Canonical Allele Identifier: CA412867482

Gene: WAS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48685756T>G , CM000685.2:g.48685756T>G	GRCh38
NC_000023.10:g.48544145T>G , CM000685.1:g.48544145T>G	GRCh37
NC_000023.9:g.48429089T>G	NCBI36
NG_007877.1:g.6960T>G , LRG_125:g.6960T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000377.3:c.383T>G MANE Select	NP_000368.1:p.Phe128Cys
ENST00000376701.5:c.383T>G MANE Select	ENSP00000365891.4:p.Phe128Cys
NM_000377.2:c.383T>G , LRG_125t1:c.383T>G	NP_000368.1:p.Phe128Cys
ENST00000376701.4:c.383T>G	ENSP00000365891.4:p.Phe128Cys
ENST00000450772.5:c.383T>G	ENSP00000410537.1:p.Phe128Cys
ENST00000465982.5:n.418T>G
ENST00000483750.5:n.409T>G
ENST00000483750.6:n.416T>G
ENST00000698625.1:c.383T>G	ENSP00000513844.1:p.Phe128Cys
ENST00000698626.1:c.383T>G	ENSP00000513845.1:p.Phe128Cys
ENST00000698635.1:c.383T>G	ENSP00000513850.1:p.Phe128Cys
XM_011543977.1:c.383T>G	XP_011542279.1:p.Phe128Cys
XM_011543977.2:c.383T>G	XP_011542279.1:p.Phe128Cys
XM_017029786.1:c.383T>G	XP_016885275.1:p.Phe128Cys