Canonical Allele Identifier: CA2652992657

Gene: ADA

Linked Data

• gnomAD v4: 20-44651896-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651896A>G , CM000682.2:g.44651896A>G	GRCh38
NC_000020.10:g.43280537A>G , CM000682.1:g.43280537A>G	GRCh37
NC_000020.9:g.42713951A>G	NCBI36
NG_007385.1:g.4840T>C , LRG_16:g.4840T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+6T>C	ENSP00000512234.1:n.-121+6T>C
ENST00000696039.1:n.321+6T>C
ENST00000696062.1:c.96+204T>C	ENSP00000512365.1:n.96+204T>C
ENST00000696064.1:c.-118+6T>C	ENSP00000512367.1:n.-118+6T>C
ENST00000696065.1:c.-121+6T>C	ENSP00000512368.1:n.-121+6T>C
ENST00000535573.1:n.332+6T>C
ENST00000536076.1:n.213+6T>C
XM_011528479.1:c.-257+6T>C	XP_011526781.1:n.-257+6T>C