Canonical Allele Identifier: CA2652992528

Gene: ADA

Linked Data

• gnomAD v4: 20-44651796-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651796C>G , CM000682.2:g.44651796C>G	GRCh38
NC_000020.10:g.43280437C>G , CM000682.1:g.43280437C>G	GRCh37
NC_000020.9:g.42713851C>G	NCBI36
NG_007385.1:g.4940G>C , LRG_16:g.4940G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+106G>C	ENSP00000512234.1:n.-121+106G>C
ENST00000696039.1:n.321+106G>C
ENST00000696062.1:c.96+304G>C	ENSP00000512365.1:n.96+304G>C
ENST00000696064.1:c.-118+106G>C	ENSP00000512367.1:n.-118+106G>C
ENST00000696065.1:c.-121+106G>C	ENSP00000512368.1:n.-121+106G>C
ENST00000535573.1:n.332+106G>C
ENST00000536076.1:n.213+106G>C
XM_011528479.1:c.-257+106G>C	XP_011526781.1:n.-257+106G>C