Canonical Allele Identifier: CA2365869068

Gene: ADA

Linked Data

• dbSNP Id: rs2065650192
• gnomAD v4: 20-44651786-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651786G>A , CM000682.2:g.44651786G>A	GRCh38
NC_000020.10:g.43280427G>A , CM000682.1:g.43280427G>A	GRCh37
NC_000020.9:g.42713841G>A	NCBI36
NG_007385.1:g.4950C>T , LRG_16:g.4950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+116C>T	ENSP00000512234.1:n.-121+116C>T
ENST00000696039.1:n.321+116C>T
ENST00000696062.1:c.96+314C>T	ENSP00000512365.1:n.96+314C>T
ENST00000696064.1:c.-118+116C>T	ENSP00000512367.1:n.-118+116C>T
ENST00000696065.1:c.-121+116C>T	ENSP00000512368.1:n.-121+116C>T
ENST00000535573.1:n.332+116C>T
ENST00000536076.1:n.213+116C>T
XM_011528479.1:c.-257+116C>T	XP_011526781.1:n.-257+116C>T