Canonical Allele Identifier: CA412872568
Gene: WAS HGNC NCBI

Linked Data

ClinVar Variation Id: 1025486
ClinVar RCV Id: RCV001325803
dbSNP Id: rs1557007058
gnomAD v2: X-48546837-G-A
gnomAD v4: X-48688448-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688448G>A , CM000685.2:g.48688448G>A GRCh38
NC_000023.10:g.48546837G>A , CM000685.1:g.48546837G>A GRCh37
NC_000023.9:g.48431781G>A NCBI36
NG_007877.1:g.9652G>A , LRG_125:g.9652G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.170G>A
ENST00000698625.1:c.926G>A ENSP00000513844.1:p.Arg309His
ENST00000698626.1:c.926G>A ENSP00000513845.1:p.Arg309His
ENST00000698635.1:c.926G>A ENSP00000513850.1:p.Arg309His
ENST00000376701.5:c.926G>A MANE Select ENSP00000365891.4:p.Arg309His
ENST00000376701.4:c.926G>A ENSP00000365891.4:p.Arg309His
ENST00000474174.1:n.170G>A
NM_000377.2:c.926G>A , LRG_125t1:c.926G>A NP_000368.1:p.Arg309His
XM_011543977.1:c.926G>A XP_011542279.1:p.Arg309His
XM_011543977.2:c.926G>A XP_011542279.1:p.Arg309His
XM_017029786.1:c.926G>A XP_016885275.1:p.Arg309His
NM_000377.3:c.926G>A MANE Select NP_000368.1:p.Arg309His