Canonical Allele Identifier: CA2365869081

Gene: ADA

Linked Data

• dbSNP Id: rs1233965404
• gnomAD v4: 20-44651802-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651802C>A , CM000682.2:g.44651802C>A	GRCh38
NC_000020.10:g.43280443C>A , CM000682.1:g.43280443C>A	GRCh37
NC_000020.9:g.42713857C>A	NCBI36
NG_007385.1:g.4934G>T , LRG_16:g.4934G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+100G>T	ENSP00000512234.1:n.-121+100G>T
ENST00000696039.1:n.321+100G>T
ENST00000696062.1:c.96+298G>T	ENSP00000512365.1:n.96+298G>T
ENST00000696064.1:c.-118+100G>T	ENSP00000512367.1:n.-118+100G>T
ENST00000696065.1:c.-121+100G>T	ENSP00000512368.1:n.-121+100G>T
ENST00000535573.1:n.332+100G>T
ENST00000536076.1:n.213+100G>T
XM_011528479.1:c.-257+100G>T	XP_011526781.1:n.-257+100G>T