Canonical Allele Identifier: CA315457277

Gene: ADA

Linked Data

• dbSNP Id: rs1048345676
• gnomAD v2: 20-43280324-C-G
• gnomAD v3: 20-44651683-C-G
• gnomAD v4: 20-44651683-C-G
• MyVariant Identifiers: chr20:g.43280324C>G (hg19) ; chr20:g.44651683C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651683C>G , CM000682.2:g.44651683C>G	GRCh38
NC_000020.10:g.43280324C>G , CM000682.1:g.43280324C>G	GRCh37
NC_000020.9:g.42713738C>G	NCBI36
NG_007385.1:g.5053G>C , LRG_16:g.5053G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.16G>C
ENST00000536076.2:c.-121+219G>C	ENSP00000512234.1:n.-121+219G>C
ENST00000536532.6:c.-76G>C	ENSP00000440946.1:n.-76G>C
ENST00000537820.2:c.-76G>C	ENSP00000441818.1:n.-76G>C
ENST00000539235.6:c.-76G>C	ENSP00000446464.1:n.-76G>C
ENST00000695889.1:c.-76G>C	ENSP00000512240.1:n.-76G>C
ENST00000695949.1:c.-76G>C	ENSP00000512281.1:n.-76G>C
ENST00000695957.1:c.-76G>C	ENSP00000512286.1:n.-76G>C
ENST00000695993.1:c.-76G>C	ENSP00000512316.1:n.-76G>C
ENST00000696003.1:n.17G>C
ENST00000696004.1:n.17G>C
ENST00000696006.1:c.-76G>C	ENSP00000512325.1:n.-76G>C
ENST00000696009.1:n.36G>C
ENST00000696010.1:n.38G>C
ENST00000696017.1:c.-76G>C	ENSP00000512333.1:n.-76G>C
ENST00000696034.1:c.-76G>C	ENSP00000512343.1:n.-76G>C
ENST00000696038.1:c.-76G>C	ENSP00000512344.1:n.-76G>C
ENST00000696039.1:n.321+219G>C
ENST00000696058.1:c.-76G>C	ENSP00000512361.1:n.-76G>C
ENST00000696059.1:c.-76G>C	ENSP00000512362.1:n.-76G>C
ENST00000696060.1:c.-76G>C	ENSP00000512363.1:n.-76G>C
ENST00000696061.1:c.-76G>C	ENSP00000512364.1:n.-76G>C
ENST00000696062.1:c.96+417G>C	ENSP00000512365.1:n.96+417G>C
ENST00000696063.1:c.-76G>C	ENSP00000512366.1:n.-76G>C
ENST00000696064.1:c.-118+219G>C	ENSP00000512367.1:n.-118+219G>C
ENST00000696065.1:c.-121+219G>C	ENSP00000512368.1:n.-121+219G>C
ENST00000696075.1:c.-76G>C	ENSP00000512374.1:n.-76G>C
ENST00000696076.1:c.-76G>C	ENSP00000512375.1:n.-76G>C
ENST00000696077.1:c.-76G>C	ENSP00000512376.1:n.-76G>C
ENST00000696078.1:c.-76G>C	ENSP00000512377.1:n.-76G>C
ENST00000696080.1:c.-76G>C	ENSP00000512379.1:n.-76G>C
ENST00000696084.1:n.26G>C
ENST00000696104.1:c.-76G>C	ENSP00000512399.1:n.-76G>C
ENST00000696105.1:c.-76G>C	ENSP00000512400.1:n.-76G>C
ENST00000372874.9:c.-76G>C MANE Select	ENSP00000361965.4:n.-76G>C
ENST00000372874.8:c.-76G>C	ENSP00000361965.4:n.-76G>C
ENST00000492931.5:n.9G>C
ENST00000535573.1:n.332+219G>C
ENST00000536076.1:n.213+219G>C
ENST00000537820.1:c.-76G>C	ENSP00000441818.1:n.-76G>C
ENST00000539235.5:c.-76G>C	ENSP00000446464.1:n.-76G>C
NM_000022.2:c.-76G>C , LRG_16t1:c.-76G>C	NP_000013.2:n.-76G>C
XM_011528479.1:c.-257+219G>C	XP_011526781.1:n.-257+219G>C
NM_000022.3:c.-76G>C	NP_000013.2:n.-76G>C
NM_001322050.1:c.-365G>C	NP_001308979.1:n.-365G>C
NM_001322051.1:c.-76G>C	NP_001308980.1:n.-76G>C
NR_136160.1:n.76G>C
NM_000022.4:c.-76G>C MANE Select	NP_000013.2:n.-76G>C
NM_001322050.2:c.-365G>C	NP_001308979.1:n.-365G>C
NM_001322051.2:c.-76G>C	NP_001308980.1:n.-76G>C
NR_136160.2:n.17G>C