Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624613C>T , CM000682.2:g.44624613C>T	GRCh38
NC_000020.10:g.43253254C>T , CM000682.1:g.43253254C>T	GRCh37
NC_000020.9:g.42686668C>T	NCBI36
NG_007385.1:g.32123G>A , LRG_16:g.32123G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.570-284G>A
ENST00000536076.2:c.326-284G>A	ENSP00000512234.1:n.326-284G>A
ENST00000536532.6:c.479-284G>A	ENSP00000440946.1:n.479-284G>A
ENST00000537820.2:c.479-284G>A	ENSP00000441818.1:n.479-284G>A
ENST00000539235.6:c.219-1535G>A	ENSP00000446464.1:n.219-1535G>A
ENST00000695889.1:c.219-1683G>A	ENSP00000512240.1:n.219-1683G>A
ENST00000695890.1:n.2282-284G>A
ENST00000695891.1:c.219-1683G>A	ENSP00000512241.1:n.219-1683G>A
ENST00000695927.1:c.557-284G>A	ENSP00000512270.1:n.557-284G>A
ENST00000695949.1:c.476-284G>A	ENSP00000512281.1:n.476-284G>A
ENST00000695957.1:c.363-284G>A	ENSP00000512286.1:n.363-284G>A
ENST00000695991.1:c.217-1683G>A	ENSP00000512314.1:n.217-1683G>A
ENST00000695992.1:c.479-284G>A	ENSP00000512315.1:n.479-284G>A
ENST00000695993.1:c.479-284G>A	ENSP00000512316.1:n.479-284G>A
ENST00000695994.1:c.479-284G>A	ENSP00000512317.1:n.479-284G>A
ENST00000695995.1:c.217-1535G>A	ENSP00000512318.1:n.217-1535G>A
ENST00000695996.1:n.550-284G>A
ENST00000695997.1:n.434-284G>A
ENST00000696003.1:n.571-284G>A
ENST00000696004.1:n.571-284G>A
ENST00000696006.1:c.479-284G>A	ENSP00000512325.1:n.479-284G>A
ENST00000696007.1:c.330-284G>A	ENSP00000512326.1:n.330-284G>A
ENST00000696008.1:n.1350G>A
ENST00000696009.1:n.1545G>A
ENST00000696017.1:c.476-284G>A	ENSP00000512333.1:n.476-284G>A
ENST00000696034.1:c.479-284G>A	ENSP00000512343.1:n.479-284G>A
ENST00000696035.1:n.589-284G>A
ENST00000696036.1:n.1169-284G>A
ENST00000696037.1:n.2156-284G>A
ENST00000696038.1:c.*225-284G>A	ENSP00000512344.1:n.*225-284G>A
ENST00000696039.1:n.767-284G>A
ENST00000696058.1:c.479-284G>A	ENSP00000512361.1:n.479-284G>A
ENST00000696059.1:c.*424-284G>A	ENSP00000512362.1:n.*424-284G>A
ENST00000696060.1:c.479-284G>A	ENSP00000512363.1:n.479-284G>A
ENST00000696061.1:c.476-284G>A	ENSP00000512364.1:n.476-284G>A
ENST00000696062.1:c.542-284G>A	ENSP00000512365.1:n.542-284G>A
ENST00000696063.1:c.554-284G>A	ENSP00000512366.1:n.554-284G>A
ENST00000696064.1:c.326-284G>A	ENSP00000512367.1:n.326-284G>A
ENST00000696065.1:c.66-1683G>A	ENSP00000512368.1:n.66-1683G>A
ENST00000696075.1:c.*449-284G>A	ENSP00000512374.1:n.*449-284G>A
ENST00000696076.1:c.479-284G>A	ENSP00000512375.1:n.479-284G>A
ENST00000696077.1:c.476-284G>A	ENSP00000512376.1:n.476-284G>A
ENST00000696078.1:c.479-284G>A	ENSP00000512377.1:n.479-284G>A
ENST00000696079.1:c.479-284G>A	ENSP00000512378.1:n.479-284G>A
ENST00000696080.1:c.479-284G>A	ENSP00000512379.1:n.479-284G>A
ENST00000696081.1:n.314G>A
ENST00000696082.1:c.557-284G>A	ENSP00000512380.1:n.557-284G>A
ENST00000696083.1:n.1076G>A
ENST00000696084.1:n.580-284G>A
ENST00000696104.1:c.363-1683G>A	ENSP00000512399.1:n.363-1683G>A
ENST00000696105.1:c.*19+35G>A	ENSP00000512400.1:n.*19+35G>A
ENST00000372874.9:c.479-284G>A MANE Select	ENSP00000361965.4:n.479-284G>A
ENST00000372874.8:c.479-284G>A	ENSP00000361965.4:n.479-284G>A
ENST00000464097.5:n.153-284G>A
ENST00000492931.5:n.563-284G>A
ENST00000536532.5:c.479-284G>A	ENSP00000440946.1:n.479-284G>A
ENST00000537820.1:c.479-284G>A	ENSP00000441818.1:n.479-284G>A
ENST00000539235.5:c.219-1535G>A	ENSP00000446464.1:n.219-1535G>A
NM_000022.2:c.479-284G>A , LRG_16t1:c.479-284G>A	NP_000013.2:n.479-284G>A
XM_005260236.2:c.479-284G>A	XP_005260293.1:n.479-284G>A
XM_011528478.1:c.74-284G>A	XP_011526780.1:n.74-284G>A
XM_011528479.1:c.74-284G>A	XP_011526781.1:n.74-284G>A
XR_244129.1:n.533-284G>A
NM_000022.3:c.479-284G>A	NP_000013.2:n.479-284G>A
NM_001322050.1:c.74-284G>A	NP_001308979.1:n.74-284G>A
NM_001322051.1:c.479-284G>A	NP_001308980.1:n.479-284G>A
NR_136160.1:n.630-284G>A
NM_000022.4:c.479-284G>A MANE Select	NP_000013.2:n.479-284G>A
NM_001322050.2:c.74-284G>A	NP_001308979.1:n.74-284G>A
NM_001322051.2:c.479-284G>A	NP_001308980.1:n.479-284G>A
NR_136160.2:n.571-284G>A

Linked Data

Genomic Alleles

Transcript Alleles