Canonical Allele Identifier: CA9871632
Gene: ADA HGNC NCBI

Linked Data

ClinVar Variation Id: 254716
dbSNP Id: rs244076

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624274T>C , CM000682.2:g.44624274T>C GRCh38
NC_000020.10:g.43252915T>C , CM000682.1:g.43252915T>C GRCh37
NC_000020.9:g.42686329T>C NCBI36
NG_007385.1:g.32462A>G , LRG_16:g.32462A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372874.9:c.534A>G MANE Select ENSP00000361965.4:p.Val178=
ENST00000372874.8:c.534A>G ENSP00000361965.4:p.Val178=
ENST00000464097.5:n.208A>G
ENST00000492931.5:n.618A>G
ENST00000536532.5:c.534A>G ENSP00000440946.1:p.Val178=
ENST00000537820.1:c.534A>G ENSP00000441818.1:p.Val178=
ENST00000539235.5:c.219-1196A>G ENSP00000446464.1:p.=
NM_000022.2:c.534A>G , LRG_16t1:c.534A>G NP_000013.2:p.Val178=
XM_005260236.2:c.534A>G XP_005260293.1:p.Val178=
XM_011528478.1:c.129A>G XP_011526780.1:p.Val43=
XM_011528479.1:c.129A>G XP_011526781.1:p.Val43=
XR_244129.1:n.588A>G
NM_000022.3:c.534A>G NP_000013.2:p.Val178=
NM_001322050.1:c.129A>G NP_001308979.1:p.Val43=
NM_001322051.1:c.534A>G NP_001308980.1:p.Val178=
NR_136160.1:n.685A>G
NM_000022.4:c.534A>G MANE Select NP_000013.2:p.Val178=
NM_001322050.2:c.129A>G NP_001308979.1:p.Val43=
NM_001322051.2:c.534A>G NP_001308980.1:p.Val178=
NR_136160.2:n.626A>G