Canonical Allele Identifier: CA1017849008

Gene: ADA

Linked Data

• dbSNP Id: rs2065651552
• gnomAD v3: 20-44651903-T-C
• gnomAD v4: 20-44651903-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651903T>C , CM000682.2:g.44651903T>C	GRCh38
NC_000020.10:g.43280544T>C , CM000682.1:g.43280544T>C	GRCh37
NC_000020.9:g.42713958T>C	NCBI36
NG_007385.1:g.4833A>G , LRG_16:g.4833A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-122A>G	ENSP00000512234.1:n.-122A>G
ENST00000696039.1:n.320A>G
ENST00000696062.1:c.96+197A>G	ENSP00000512365.1:n.96+197A>G
ENST00000696064.1:c.-119A>G	ENSP00000512367.1:n.-119A>G
ENST00000696065.1:c.-122A>G	ENSP00000512368.1:n.-122A>G
ENST00000535573.1:n.331A>G
ENST00000536076.1:n.212A>G
XM_011528479.1:c.-258A>G	XP_011526781.1:n.-258A>G