Canonical Allele Identifier: CA315457416

Gene: ADA

Linked Data

• dbSNP Id: rs1037702280
• gnomAD v4: 20-44651960-C-G
• MyVariant Identifiers: chr20:g.43280601C>G (hg19) ; chr20:g.44651960C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651960C>G , CM000682.2:g.44651960C>G	GRCh38
NC_000020.10:g.43280601C>G , CM000682.1:g.43280601C>G	GRCh37
NC_000020.9:g.42714015C>G	NCBI36
NG_007385.1:g.4776G>C , LRG_16:g.4776G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-179G>C	ENSP00000512234.1:n.-179G>C
ENST00000696039.1:n.263G>C
ENST00000696062.1:c.96+140G>C	ENSP00000512365.1:n.96+140G>C
ENST00000696064.1:c.-176G>C	ENSP00000512367.1:n.-176G>C
ENST00000535573.1:n.274G>C
ENST00000536076.1:n.155G>C
XM_011528479.1:c.-315G>C	XP_011526781.1:n.-315G>C