Canonical Allele Identifier: CA744696854

Gene: ADA

Linked Data

• dbSNP Id: rs1332969506
• gnomAD v4: 20-44651797-C-G
• MyVariant Identifiers: chr20:g.43280438C>G (hg19) ; chr20:g.44651797C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651797C>G , CM000682.2:g.44651797C>G	GRCh38
NC_000020.10:g.43280438C>G , CM000682.1:g.43280438C>G	GRCh37
NC_000020.9:g.42713852C>G	NCBI36
NG_007385.1:g.4939G>C , LRG_16:g.4939G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+105G>C	ENSP00000512234.1:n.-121+105G>C
ENST00000696039.1:n.321+105G>C
ENST00000696062.1:c.96+303G>C	ENSP00000512365.1:n.96+303G>C
ENST00000696064.1:c.-118+105G>C	ENSP00000512367.1:n.-118+105G>C
ENST00000696065.1:c.-121+105G>C	ENSP00000512368.1:n.-121+105G>C
ENST00000535573.1:n.332+105G>C
ENST00000536076.1:n.213+105G>C
XM_011528479.1:c.-257+105G>C	XP_011526781.1:n.-257+105G>C