Canonical Allele Identifier: CA516021855

Gene: WAS

Linked Data

• ClinVar Variation Id: 2922474
• ClinVar RCV Id: RCV003785688
• dbSNP Id: rs2062410609
• gnomAD v4: X-48683904-G-A
• MyVariant Identifiers: chrX:g.48542293G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48683904G>A , CM000685.2:g.48683904G>A	GRCh38
NC_000023.10:g.48542293G>A , CM000685.1:g.48542293G>A	GRCh37
NC_000023.9:g.48427237G>A	NCBI36
NG_007877.1:g.5108G>A , LRG_125:g.5108G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000483750.6:n.84G>A
ENST00000698625.1:c.51G>A	ENSP00000513844.1:p.Ala17=
ENST00000698626.1:c.51G>A	ENSP00000513845.1:p.Ala17=
ENST00000698635.1:c.51G>A	ENSP00000513850.1:p.Ala17=
ENST00000376701.5:c.51G>A MANE Select	ENSP00000365891.4:p.Ala17=
ENST00000376701.4:c.51G>A	ENSP00000365891.4:p.Ala17=
ENST00000450772.5:c.51G>A	ENSP00000410537.1:p.Ala17=
ENST00000465982.5:n.86G>A
ENST00000483750.5:n.77G>A
NM_000377.2:c.51G>A , LRG_125t1:c.51G>A	NP_000368.1:p.Ala17=
XM_011543977.1:c.51G>A	XP_011542279.1:p.Ala17=
XM_011543977.2:c.51G>A	XP_011542279.1:p.Ala17=
XM_017029786.1:c.51G>A	XP_016885275.1:p.Ala17=
NM_000377.3:c.51G>A MANE Select	NP_000368.1:p.Ala17=