Canonical Allele Identifier: CA2579600727

Gene: WAS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48689097T>A , CM000685.2:g.48689097T>A	GRCh38
NC_000023.10:g.48547486T>A , CM000685.1:g.48547486T>A	GRCh37
NC_000023.9:g.48432430T>A	NCBI36
NG_007877.1:g.10301T>A , LRG_125:g.10301T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.582+31T>A
ENST00000698625.1:c.1338+31T>A	ENSP00000513844.1:n.1338+31T>A
ENST00000698626.1:c.1338+31T>A	ENSP00000513845.1:n.1338+31T>A
ENST00000698635.1:c.1338+31T>A	ENSP00000513850.1:n.1338+31T>A
ENST00000376701.5:c.1338+31T>A MANE Select	ENSP00000365891.4:n.1338+31T>A
ENST00000376701.4:c.1338+31T>A	ENSP00000365891.4:n.1338+31T>A
ENST00000470107.1:n.47+31T>A
NM_000377.2:c.1338+31T>A , LRG_125t1:c.1338+31T>A	NP_000368.1:n.1338+31T>A
XM_011543977.1:c.1182+31T>A	XP_011542279.1:n.1182+31T>A
XM_011543977.2:c.1182+31T>A	XP_011542279.1:n.1182+31T>A
XM_017029786.1:c.1338+31T>A	XP_016885275.1:n.1338+31T>A
NM_000377.3:c.1338+31T>A MANE Select	NP_000368.1:n.1338+31T>A