Canonical Allele Identifier: CA412872880

Gene: WAS

Linked Data

• ClinVar Variation Id: 1303154
• ClinVar RCV Id: RCV001756653
• dbSNP Id: rs1431544968
• gnomAD v4: X-48688721-T-G
• MyVariant Identifiers: chrX:g.48547110T>G (hg19) ; chrX:g.48688721T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688721T>G , CM000685.2:g.48688721T>G	GRCh38
NC_000023.10:g.48547110T>G , CM000685.1:g.48547110T>G	GRCh37
NC_000023.9:g.48432054T>G	NCBI36
NG_007877.1:g.9925T>G , LRG_125:g.9925T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000474174.2:n.237T>G
ENST00000698625.1:c.993T>G	ENSP00000513844.1:p.Ile331Met
ENST00000698626.1:c.993T>G	ENSP00000513845.1:p.Ile331Met
ENST00000698635.1:c.993T>G	ENSP00000513850.1:p.Ile331Met
ENST00000376701.5:c.993T>G MANE Select	ENSP00000365891.4:p.Ile331Met
ENST00000376701.4:c.993T>G	ENSP00000365891.4:p.Ile331Met
ENST00000474174.1:n.237T>G
NM_000377.2:c.993T>G , LRG_125t1:c.993T>G	NP_000368.1:p.Ile331Met
XM_011543977.1:c.932-95T>G	XP_011542279.1:n.932-95T>G
XM_011543977.2:c.932-95T>G	XP_011542279.1:n.932-95T>G
XM_017029786.1:c.993T>G	XP_016885275.1:p.Ile331Met
NM_000377.3:c.993T>G MANE Select	NP_000368.1:p.Ile331Met