Canonical Allele Identifier: CA1017849014

Gene: ADA

Linked Data

• dbSNP Id: rs2065651982
• gnomAD v3: 20-44651931-G-A
• gnomAD v4: 20-44651931-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651931G>A , CM000682.2:g.44651931G>A	GRCh38
NC_000020.10:g.43280572G>A , CM000682.1:g.43280572G>A	GRCh37
NC_000020.9:g.42713986G>A	NCBI36
NG_007385.1:g.4805C>T , LRG_16:g.4805C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-150C>T	ENSP00000512234.1:n.-150C>T
ENST00000696039.1:n.292C>T
ENST00000696062.1:c.96+169C>T	ENSP00000512365.1:n.96+169C>T
ENST00000696064.1:c.-147C>T	ENSP00000512367.1:n.-147C>T
ENST00000535573.1:n.303C>T
ENST00000536076.1:n.184C>T
XM_011528479.1:c.-286C>T	XP_011526781.1:n.-286C>T