Canonical Allele Identifier: CA744696969

Gene: ADA

Linked Data

• dbSNP Id: rs1173518779
• gnomAD v3: 20-44651983-G-A
• gnomAD v4: 20-44651983-G-A
• MyVariant Identifiers: chr20:g.43280624G>A (hg19) ; chr20:g.44651983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651983G>A , CM000682.2:g.44651983G>A	GRCh38
NC_000020.10:g.43280624G>A , CM000682.1:g.43280624G>A	GRCh37
NC_000020.9:g.42714038G>A	NCBI36
NG_007385.1:g.4753C>T , LRG_16:g.4753C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-202C>T	ENSP00000512234.1:n.-202C>T
ENST00000696039.1:n.240C>T
ENST00000696062.1:c.96+117C>T	ENSP00000512365.1:n.96+117C>T
ENST00000696064.1:c.-199C>T	ENSP00000512367.1:n.-199C>T
ENST00000535573.1:n.251C>T
ENST00000536076.1:n.132C>T
XM_011528479.1:c.-338C>T	XP_011526781.1:n.-338C>T