Canonical Allele Identifier: CA162675
Gene: WAS HGNC NCBI

Linked Data

ClinVar Variation Id: 135410
dbSNP Id: rs2737799
gnomAD v2: X-48547112-T-C
gnomAD v3: X-48688723-T-C
gnomAD v4: X-48688723-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688723T>C , CM000685.2:g.48688723T>C GRCh38
NC_000023.10:g.48547112T>C , CM000685.1:g.48547112T>C GRCh37
NC_000023.9:g.48432056T>C NCBI36
NG_007877.1:g.9927T>C , LRG_125:g.9927T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000474174.2:n.239T>C
ENST00000698625.1:c.995T>C ENSP00000513844.1:p.Val332Ala
ENST00000698626.1:c.995T>C ENSP00000513845.1:p.Val332Ala
ENST00000698635.1:c.995T>C ENSP00000513850.1:p.Val332Ala
ENST00000376701.5:c.995T>C MANE Select ENSP00000365891.4:p.Val332Ala
ENST00000376701.4:c.995T>C ENSP00000365891.4:p.Val332Ala
ENST00000474174.1:n.239T>C
NM_000377.2:c.995T>C , LRG_125t1:c.995T>C NP_000368.1:p.Val332Ala
XM_011543977.1:c.932-93T>C XP_011542279.1:n.932-93T>C
XM_011543977.2:c.932-93T>C XP_011542279.1:n.932-93T>C
XM_017029786.1:c.995T>C XP_016885275.1:p.Val332Ala
NM_000377.3:c.995T>C MANE Select NP_000368.1:p.Val332Ala