Canonical Allele Identifier: CA341003

Gene: WAS

Linked Data

• ClinVar Variation Id: 11115
• ClinVar RCV Id: RCV000414284 ; RCV000633305 ; RCV000011864
• dbSNP Id: rs132630268
• gnomAD v4: X-48684407-G-A
• MyVariant Identifiers: chrX:g.48542796G>A (hg19) ; chrX:g.48684407G>A (hg38)
• PubMed: PMID:8528199 ; PMID:8682510

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48684407G>A , CM000685.2:g.48684407G>A	GRCh38
NC_000023.10:g.48542796G>A , CM000685.1:g.48542796G>A	GRCh37
NC_000023.9:g.48427740G>A	NCBI36
NG_007877.1:g.5611G>A , LRG_125:g.5611G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.290G>A
ENST00000698625.1:c.257G>A	ENSP00000513844.1:p.Arg86His
ENST00000698626.1:c.257G>A	ENSP00000513845.1:p.Arg86His
ENST00000698635.1:c.257G>A	ENSP00000513850.1:p.Arg86His
ENST00000376701.5:c.257G>A MANE Select	ENSP00000365891.4:p.Arg86His
ENST00000376701.4:c.257G>A	ENSP00000365891.4:p.Arg86His
ENST00000450772.5:c.257G>A	ENSP00000410537.1:p.Arg86His
ENST00000465982.5:n.292G>A
ENST00000483750.5:n.283G>A
NM_000377.2:c.257G>A , LRG_125t1:c.257G>A	NP_000368.1:p.Arg86His
XM_011543977.1:c.257G>A	XP_011542279.1:p.Arg86His
XM_011543977.2:c.257G>A	XP_011542279.1:p.Arg86His
XM_017029786.1:c.257G>A	XP_016885275.1:p.Arg86His
NM_000377.3:c.257G>A MANE Select	NP_000368.1:p.Arg86His