Canonical Allele Identifier: CA2365869147

Gene: ADA

Linked Data

• dbSNP Id: rs2065651570
• gnomAD v4: 20-44651906-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651906G>A , CM000682.2:g.44651906G>A	GRCh38
NC_000020.10:g.43280547G>A , CM000682.1:g.43280547G>A	GRCh37
NC_000020.9:g.42713961G>A	NCBI36
NG_007385.1:g.4830C>T , LRG_16:g.4830C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-125C>T	ENSP00000512234.1:n.-125C>T
ENST00000696039.1:n.317C>T
ENST00000696062.1:c.96+194C>T	ENSP00000512365.1:n.96+194C>T
ENST00000696064.1:c.-122C>T	ENSP00000512367.1:n.-122C>T
ENST00000696065.1:c.-125C>T	ENSP00000512368.1:n.-125C>T
ENST00000535573.1:n.328C>T
ENST00000536076.1:n.209C>T
XM_011528479.1:c.-261C>T	XP_011526781.1:n.-261C>T