Canonical Allele Identifier: CA2577406084
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651698G>C , CM000682.2:g.44651698G>C GRCh38
NC_000020.10:g.43280339G>C , CM000682.1:g.43280339G>C GRCh37
NC_000020.9:g.42713753G>C NCBI36
NG_007385.1:g.5038C>G , LRG_16:g.5038C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.1C>G
ENST00000536076.2:c.-121+204C>G ENSP00000512234.1:n.-121+204C>G
ENST00000537820.2:c.-91C>G ENSP00000441818.1:n.-91C>G
ENST00000695889.1:c.-91C>G ENSP00000512240.1:n.-91C>G
ENST00000695949.1:c.-91C>G ENSP00000512281.1:n.-91C>G
ENST00000695993.1:c.-91C>G ENSP00000512316.1:n.-91C>G
ENST00000696003.1:n.2C>G
ENST00000696004.1:n.2C>G
ENST00000696006.1:c.-91C>G ENSP00000512325.1:n.-91C>G
ENST00000696009.1:n.21C>G
ENST00000696010.1:n.23C>G
ENST00000696034.1:c.-91C>G ENSP00000512343.1:n.-91C>G
ENST00000696038.1:c.-91C>G ENSP00000512344.1:n.-91C>G
ENST00000696039.1:n.321+204C>G
ENST00000696059.1:c.-91C>G ENSP00000512362.1:n.-91C>G
ENST00000696060.1:c.-91C>G ENSP00000512363.1:n.-91C>G
ENST00000696061.1:c.-91C>G ENSP00000512364.1:n.-91C>G
ENST00000696062.1:c.96+402C>G ENSP00000512365.1:n.96+402C>G
ENST00000696064.1:c.-118+204C>G ENSP00000512367.1:n.-118+204C>G
ENST00000696065.1:c.-121+204C>G ENSP00000512368.1:n.-121+204C>G
ENST00000696075.1:c.-91C>G ENSP00000512374.1:n.-91C>G
ENST00000696076.1:c.-91C>G ENSP00000512375.1:n.-91C>G
ENST00000696077.1:c.-91C>G ENSP00000512376.1:n.-91C>G
ENST00000696078.1:c.-91C>G ENSP00000512377.1:n.-91C>G
ENST00000696080.1:c.-91C>G ENSP00000512379.1:n.-91C>G
ENST00000696084.1:n.11C>G
ENST00000696104.1:c.-91C>G ENSP00000512399.1:n.-91C>G
ENST00000696105.1:c.-91C>G ENSP00000512400.1:n.-91C>G
ENST00000372874.9:c.-91C>G MANE Select ENSP00000361965.4:n.-91C>G
ENST00000372874.8:c.-91C>G ENSP00000361965.4:n.-91C>G
ENST00000535573.1:n.332+204C>G
ENST00000536076.1:n.213+204C>G
NM_000022.2:c.-91C>G , LRG_16t1:c.-91C>G NP_000013.2:n.-91C>G
XM_011528479.1:c.-257+204C>G XP_011526781.1:n.-257+204C>G
NM_000022.3:c.-91C>G NP_000013.2:n.-91C>G
NM_001322050.1:c.-380C>G NP_001308979.1:n.-380C>G
NM_001322051.1:c.-91C>G NP_001308980.1:n.-91C>G
NR_136160.1:n.61C>G
NM_000022.4:c.-91C>G MANE Select NP_000013.2:n.-91C>G
NM_001322050.2:c.-380C>G NP_001308979.1:n.-380C>G
NM_001322051.2:c.-91C>G NP_001308980.1:n.-91C>G
NR_136160.2:n.2C>G