Canonical Allele Identifier: CA251993
Gene: ADA HGNC NCBI

Linked Data

ClinVar Variation Id: 1954
dbSNP Id: rs11555566

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44626579T>C , CM000682.2:g.44626579T>C GRCh38
NC_000020.10:g.43255220T>C , CM000682.1:g.43255220T>C GRCh37
NC_000020.9:g.42688634T>C NCBI36
NG_007385.1:g.30157A>G , LRG_16:g.30157A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372874.8:c.239A>G ENSP00000361965.4:p.Lys80Arg
ENST00000536532.5:c.239A>G ENSP00000440946.1:p.Lys80Arg
ENST00000537820.1:c.239A>G ENSP00000441818.1:p.Lys80Arg
ENST00000539235.5:c.218+2468A>G ENSP00000446464.1:p.=
NM_000022.2:c.239A>G , LRG_16t1:c.239A>G NP_000013.2:p.Lys80Arg
XM_005260236.2:c.239A>G XP_005260293.1:p.Lys80Arg
XM_011528478.1:c.-51A>G XP_011526780.1:p.=
XM_011528479.1:c.-51A>G XP_011526781.1:p.=
NM_000022.3:c.239A>G NP_000013.2:p.Lys80Arg
NM_001322051.1:c.239A>G NP_001308980.1:p.Lys80Arg
NM_000022.4:c.239A>G MANE Select NP_000013.2:p.Lys80Arg
NM_001322050.2:c.-51A>G NP_001308979.1:p.=
NM_001322051.2:c.239A>G NP_001308980.1:p.Lys80Arg