Canonical Allele Identifier: CA2652992550

Gene: ADA

Linked Data

• gnomAD v4: 20-44651812-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651812C>T , CM000682.2:g.44651812C>T	GRCh38
NC_000020.10:g.43280453C>T , CM000682.1:g.43280453C>T	GRCh37
NC_000020.9:g.42713867C>T	NCBI36
NG_007385.1:g.4924G>A , LRG_16:g.4924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+90G>A	ENSP00000512234.1:n.-121+90G>A
ENST00000696039.1:n.321+90G>A
ENST00000696062.1:c.96+288G>A	ENSP00000512365.1:n.96+288G>A
ENST00000696064.1:c.-118+90G>A	ENSP00000512367.1:n.-118+90G>A
ENST00000696065.1:c.-121+90G>A	ENSP00000512368.1:n.-121+90G>A
ENST00000535573.1:n.332+90G>A
ENST00000536076.1:n.213+90G>A
XM_011528479.1:c.-257+90G>A	XP_011526781.1:n.-257+90G>A