Canonical Allele Identifier: CA315457280

Gene: ADA

Linked Data

• dbSNP Id: rs1041341463
• gnomAD v4: 20-44651712-C-G
• MyVariant Identifiers: chr20:g.43280353C>G (hg19) ; chr20:g.44651712C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651712C>G , CM000682.2:g.44651712C>G	GRCh38
NC_000020.10:g.43280353C>G , CM000682.1:g.43280353C>G	GRCh37
NC_000020.9:g.42713767C>G	NCBI36
NG_007385.1:g.5024G>C , LRG_16:g.5024G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+190G>C	ENSP00000512234.1:n.-121+190G>C
ENST00000537820.2:c.-105G>C	ENSP00000441818.1:n.-105G>C
ENST00000695949.1:c.-105G>C	ENSP00000512281.1:n.-105G>C
ENST00000695993.1:c.-105G>C	ENSP00000512316.1:n.-105G>C
ENST00000696006.1:c.-105G>C	ENSP00000512325.1:n.-105G>C
ENST00000696009.1:n.7G>C
ENST00000696010.1:n.9G>C
ENST00000696039.1:n.321+190G>C
ENST00000696059.1:c.-105G>C	ENSP00000512362.1:n.-105G>C
ENST00000696060.1:c.-105G>C	ENSP00000512363.1:n.-105G>C
ENST00000696061.1:c.-105G>C	ENSP00000512364.1:n.-105G>C
ENST00000696062.1:c.96+388G>C	ENSP00000512365.1:n.96+388G>C
ENST00000696064.1:c.-118+190G>C	ENSP00000512367.1:n.-118+190G>C
ENST00000696065.1:c.-121+190G>C	ENSP00000512368.1:n.-121+190G>C
ENST00000696076.1:c.-105G>C	ENSP00000512375.1:n.-105G>C
ENST00000696077.1:c.-105G>C	ENSP00000512376.1:n.-105G>C
ENST00000696078.1:c.-105G>C	ENSP00000512377.1:n.-105G>C
ENST00000696080.1:c.-105G>C	ENSP00000512379.1:n.-105G>C
ENST00000372874.8:c.-105G>C	ENSP00000361965.4:n.-105G>C
ENST00000535573.1:n.332+190G>C
ENST00000536076.1:n.213+190G>C
NM_000022.2:c.-105G>C , LRG_16t1:c.-105G>C	NP_000013.2:n.-105G>C
XM_011528479.1:c.-257+190G>C	XP_011526781.1:n.-257+190G>C
NM_000022.3:c.-105G>C	NP_000013.2:n.-105G>C
NM_001322050.1:c.-394G>C	NP_001308979.1:n.-394G>C
NM_001322051.1:c.-105G>C	NP_001308980.1:n.-105G>C
NR_136160.1:n.47G>C