Canonical Allele Identifier: CA16621420

Gene: WAS

Linked Data

• ClinVar Variation Id: 418541
• ClinVar RCV Id: RCV000482823 ; RCV000780796 ; RCV001038563
• dbSNP Id: rs1064793293
• MyVariant Identifiers: chrX:g.48547823G>A (hg19) ; chrX:g.48689434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48689434G>A , CM000685.2:g.48689434G>A	GRCh38
NC_000023.10:g.48547823G>A , CM000685.1:g.48547823G>A	GRCh37
NC_000023.9:g.48432767G>A	NCBI36
NG_007877.1:g.10638G>A , LRG_125:g.10638G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698625.1:c.1453G>A	ENSP00000513844.1:p.Asp485Asn
ENST00000698626.1:c.1453G>A	ENSP00000513845.1:p.Gly485Arg
ENST00000698635.1:c.1453G>A	ENSP00000513850.1:p.Gly485Arg
ENST00000376701.5:c.1453G>A MANE Select	ENSP00000365891.4:p.Asp485Asn
ENST00000376701.4:c.1453G>A	ENSP00000365891.4:p.Asp485Asn
ENST00000470107.1:n.162G>A
NM_000377.2:c.1453G>A , LRG_125t1:c.1453G>A	NP_000368.1:p.Asp485Asn
XM_011543977.1:c.1297G>A	XP_011542279.1:p.Asp433Asn
XM_011543977.2:c.1297G>A	XP_011542279.1:p.Asp433Asn
XM_017029786.1:c.1453G>A	XP_016885275.1:p.Gly485Arg
NM_000377.3:c.1453G>A MANE Select	NP_000368.1:p.Asp485Asn