Canonical Allele Identifier: CA412872519

Gene: WAS

Linked Data

• ClinVar Variation Id: 1956514
• ClinVar RCV Id: RCV002720272
• dbSNP Id: rs1557007052
• gnomAD v2: X-48546827-G-A
• gnomAD v4: X-48688438-G-A
• COSMIC: COSM3561962
• MyVariant Identifiers: chrX:g.48546827G>A (hg19) ; chrX:g.48688438G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688438G>A , CM000685.2:g.48688438G>A	GRCh38
NC_000023.10:g.48546827G>A , CM000685.1:g.48546827G>A	GRCh37
NC_000023.9:g.48431771G>A	NCBI36
NG_007877.1:g.9642G>A , LRG_125:g.9642G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.160G>A
ENST00000698625.1:c.916G>A	ENSP00000513844.1:p.Glu306Lys
ENST00000698626.1:c.916G>A	ENSP00000513845.1:p.Glu306Lys
ENST00000698635.1:c.916G>A	ENSP00000513850.1:p.Glu306Lys
ENST00000376701.5:c.916G>A MANE Select	ENSP00000365891.4:p.Glu306Lys
ENST00000376701.4:c.916G>A	ENSP00000365891.4:p.Glu306Lys
ENST00000474174.1:n.160G>A
NM_000377.2:c.916G>A , LRG_125t1:c.916G>A	NP_000368.1:p.Glu306Lys
XM_011543977.1:c.916G>A	XP_011542279.1:p.Glu306Lys
XM_011543977.2:c.916G>A	XP_011542279.1:p.Glu306Lys
XM_017029786.1:c.916G>A	XP_016885275.1:p.Glu306Lys
NM_000377.3:c.916G>A MANE Select	NP_000368.1:p.Glu306Lys