Canonical Allele Identifier: CA2652992579
Gene: ADA HGNC NCBI

Linked Data

gnomAD v4: 20-44651835-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651835T>G , CM000682.2:g.44651835T>G GRCh38
NC_000020.10:g.43280476T>G , CM000682.1:g.43280476T>G GRCh37
NC_000020.9:g.42713890T>G NCBI36
NG_007385.1:g.4901A>C , LRG_16:g.4901A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000536076.2:c.-121+67A>C ENSP00000512234.1:n.-121+67A>C
ENST00000696039.1:n.321+67A>C
ENST00000696062.1:c.96+265A>C ENSP00000512365.1:n.96+265A>C
ENST00000696064.1:c.-118+67A>C ENSP00000512367.1:n.-118+67A>C
ENST00000696065.1:c.-121+67A>C ENSP00000512368.1:n.-121+67A>C
ENST00000535573.1:n.332+67A>C
ENST00000536076.1:n.213+67A>C
XM_011528479.1:c.-257+67A>C XP_011526781.1:n.-257+67A>C
Search 100 bp 5'
Search 100 bp 3'