Canonical Allele Identifier: CA412872268

Gene: WAS

Linked Data

• MyVariant Identifiers: chrX:g.48546744A>T (hg19) ; chrX:g.48688355A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688355A>T , CM000685.2:g.48688355A>T	GRCh38
NC_000023.10:g.48546744A>T , CM000685.1:g.48546744A>T	GRCh37
NC_000023.9:g.48431688A>T	NCBI36
NG_007877.1:g.9559A>T , LRG_125:g.9559A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.77A>T
ENST00000483750.6:n.1069A>T
ENST00000698625.1:c.833A>T	ENSP00000513844.1:p.Glu278Val
ENST00000698626.1:c.833A>T	ENSP00000513845.1:p.Glu278Val
ENST00000698635.1:c.833A>T	ENSP00000513850.1:p.Glu278Val
ENST00000376701.5:c.833A>T MANE Select	ENSP00000365891.4:p.Glu278Val
ENST00000376701.4:c.833A>T	ENSP00000365891.4:p.Glu278Val
ENST00000474174.1:n.77A>T
NM_000377.2:c.833A>T , LRG_125t1:c.833A>T	NP_000368.1:p.Glu278Val
XM_011543977.1:c.833A>T	XP_011542279.1:p.Glu278Val
XM_011543977.2:c.833A>T	XP_011542279.1:p.Glu278Val
XM_017029786.1:c.833A>T	XP_016885275.1:p.Glu278Val
NM_000377.3:c.833A>T MANE Select	NP_000368.1:p.Glu278Val