Canonical Allele Identifier: CA252016
Gene: ADA HGNC NCBI

Linked Data

ClinVar Variation Id: 1977
ClinVar RCV Id: RCV000002054
dbSNP Id: rs199422328

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44626597C>A , CM000682.2:g.44626597C>A GRCh38
NC_000020.10:g.43255238C>A , CM000682.1:g.43255238C>A GRCh37
NC_000020.9:g.42688652C>A NCBI36
NG_007385.1:g.30139G>T , LRG_16:g.30139G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372874.9:c.221G>T MANE Select ENSP00000361965.4:p.Gly74Val
ENST00000372874.8:c.221G>T ENSP00000361965.4:p.Gly74Val
ENST00000492931.5:n.305G>T
ENST00000536076.1:n.401G>T
ENST00000536532.5:c.221G>T ENSP00000440946.1:p.Gly74Val
ENST00000537820.1:c.221G>T ENSP00000441818.1:p.Gly74Val
ENST00000539235.5:c.218+2450G>T ENSP00000446464.1:p.=
ENST00000545776.5:n.275G>T
NM_000022.2:c.221G>T , LRG_16t1:c.221G>T NP_000013.2:p.Gly74Val
XM_005260236.2:c.221G>T XP_005260293.1:p.Gly74Val
XM_011528478.1:c.-69G>T XP_011526780.1:p.=
XM_011528479.1:c.-69G>T XP_011526781.1:p.=
XR_244129.1:n.275G>T
NM_000022.3:c.221G>T NP_000013.2:p.Gly74Val
NM_001322050.1:c.-69G>T NP_001308979.1:p.=
NM_001322051.1:c.221G>T NP_001308980.1:p.Gly74Val
NR_136160.1:n.372G>T
NM_000022.4:c.221G>T MANE Select NP_000013.2:p.Gly74Val
NM_001322050.2:c.-69G>T NP_001308979.1:p.=
NM_001322051.2:c.221G>T NP_001308980.1:p.Gly74Val
NR_136160.2:n.313G>T