Canonical Allele Identifier: CA358594
Gene: ADA HGNC NCBI

Linked Data

dbSNP Id: rs267606635

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44626502G>C , CM000682.2:g.44626502G>C GRCh38
NC_000020.10:g.43255143G>C , CM000682.1:g.43255143G>C GRCh37
NC_000020.9:g.42688557G>C NCBI36
NG_007385.1:g.30234C>G , LRG_16:g.30234C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372874.9:c.316C>G MANE Select ENSP00000361965.4:p.Leu106Val
ENST00000372874.8:c.316C>G ENSP00000361965.4:p.Leu106Val
ENST00000492931.5:n.400C>G
ENST00000536532.5:c.316C>G ENSP00000440946.1:p.Leu106Val
ENST00000537820.1:c.316C>G ENSP00000441818.1:p.Leu106Val
ENST00000539235.5:c.218+2545C>G ENSP00000446464.1:p.=
ENST00000545776.5:n.370C>G
NM_000022.2:c.316C>G , LRG_16t1:c.316C>G NP_000013.2:p.Leu106Val
XM_005260236.2:c.316C>G XP_005260293.1:p.Leu106Val
XM_011528478.1:c.27C>G XP_011526780.1:p.Thr9=
XM_011528479.1:c.27C>G XP_011526781.1:p.Thr9=
XR_244129.1:n.370C>G
NM_000022.3:c.316C>G NP_000013.2:p.Leu106Val
NM_001322050.1:c.27C>G NP_001308979.1:p.Thr9=
NM_001322051.1:c.316C>G NP_001308980.1:p.Leu106Val
NR_136160.1:n.467C>G
NM_000022.4:c.316C>G MANE Select NP_000013.2:p.Leu106Val
NM_001322050.2:c.27C>G NP_001308979.1:p.Thr9=
NM_001322051.2:c.316C>G NP_001308980.1:p.Leu106Val
NR_136160.2:n.408C>G