Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014709G>A , CM000672.2:g.89014709G>A	GRCh38
NC_000010.10:g.90774466G>A , CM000672.1:g.90774466G>A	GRCh37
NC_000010.9:g.90764446G>A	NCBI36
NG_009089.2:g.29179G>A , LRG_134:g.29179G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1576G>A
ENST00000355740.8:c.*590G>A	ENSP00000347979.3:n.*590G>A
ENST00000357339.7:c.*259G>A	ENSP00000349896.2:n.*259G>A
ENST00000371857.8:n.2812G>A
ENST00000460510.6:c.*259G>A	ENSP00000512812.1:n.*259G>A
ENST00000466081.6:n.2916G>A
ENST00000477270.6:c.*259G>A	ENSP00000512813.1:n.*259G>A
ENST00000492756.7:c.*696G>A	ENSP00000422453.1:n.*696G>A
ENST00000494799.6:c.*259G>A	ENSP00000512834.1:n.*259G>A
ENST00000562983.3:c.*259G>A	ENSP00000512845.1:n.*259G>A
ENST00000612663.6:c.*669G>A	ENSP00000477997.3:n.*669G>A
ENST00000640140.2:n.1412G>A
ENST00000640250.2:n.766G>A
ENST00000640681.2:n.1371G>A
ENST00000696723.1:n.4900G>A
ENST00000696741.1:n.2905G>A
ENST00000696742.1:n.2632G>A
ENST00000696743.1:n.4035G>A
ENST00000696744.1:n.1306G>A
ENST00000696767.1:n.1601G>A
ENST00000696768.1:c.*590G>A	ENSP00000512859.1:n.*590G>A
ENST00000696771.1:c.*259G>A	ENSP00000512860.1:n.*259G>A
ENST00000696772.1:n.2870G>A
ENST00000696773.1:n.2609G>A
ENST00000696774.1:n.6377G>A
ENST00000696776.1:c.*259G>A	ENSP00000512861.1:n.*259G>A
ENST00000696777.1:n.2675G>A
ENST00000696778.1:n.1703G>A
ENST00000696779.1:c.*259G>A	ENSP00000512862.1:n.*259G>A
ENST00000696780.1:c.*259G>A	ENSP00000512863.1:n.*259G>A
ENST00000696781.1:c.*259G>A	ENSP00000512864.1:n.*259G>A
ENST00000696782.1:c.*669G>A	ENSP00000512865.1:n.*669G>A
ENST00000696783.1:n.3135G>A
ENST00000696992.1:n.2384G>A
ENST00000696995.1:n.4796G>A
ENST00000696996.1:n.2709G>A
ENST00000696997.1:c.*897G>A	ENSP00000513028.1:n.*897G>A
ENST00000696998.1:n.2521G>A
ENST00000696999.1:c.*259G>A	ENSP00000513029.1:n.*259G>A
ENST00000697036.1:c.*683G>A	ENSP00000513060.1:n.*683G>A
ENST00000697037.1:n.1302G>A
ENST00000697093.1:n.3503G>A
ENST00000697094.1:n.3850G>A
ENST00000697095.1:c.*2468G>A	ENSP00000513104.1:n.*2468G>A
ENST00000697096.1:n.2400G>A
ENST00000697097.1:c.*259G>A	ENSP00000513105.1:n.*259G>A
ENST00000562983.2:n.1453G>A
ENST00000690268.1:c.*259G>A	ENSP00000509810.1:n.*259G>A
ENST00000355740.7:c.*593G>A	ENSP00000347979.3:n.*593G>A
ENST00000640140.1:n.1439G>A
ENST00000640250.1:n.766G>A
ENST00000640681.1:n.1388G>A
ENST00000652046.1:c.*259G>A MANE Select	ENSP00000498466.1:n.*259G>A
ENST00000352159.8:c.*584G>A	ENSP00000345601.4:n.*584G>A
ENST00000355740.6:c.*259G>A	ENSP00000347979.2:n.*259G>A
NM_000043.4:c.259G>A , LRG_134t1:c.259G>A	NP_000034.1:n.*259G>A
NM_152871.2:c.*259G>A	NP_690610.1:n.*259G>A
NM_152872.2:c.*579G>A	NP_690611.1:n.*579G>A
NR_028033.2:n.1441G>A
NR_028034.2:n.1303G>A
NR_028035.2:n.1366G>A
NR_028036.2:n.1504G>A
XM_006717819.2:c.*259G>A	XP_006717882.1:n.*259G>A
XM_011539764.1:c.*259G>A	XP_011538066.1:n.*259G>A
XM_011539765.1:c.*259G>A	XP_011538067.1:n.*259G>A
XM_011539766.1:c.*259G>A	XP_011538068.1:n.*259G>A
XM_011539767.1:c.*259G>A	XP_011538069.1:n.*259G>A
NM_000043.5:c.*259G>A	NP_000034.1:n.*259G>A
NM_001320619.1:c.*590G>A	NP_001307548.1:n.*590G>A
NM_152871.3:c.*259G>A	NP_690610.1:n.*259G>A
NM_152872.3:c.*579G>A	NP_690611.1:n.*579G>A
NR_028033.3:n.1413G>A
NR_028034.3:n.1275G>A
NR_028035.3:n.1338G>A
NR_028036.3:n.1476G>A
NR_135313.1:n.1393G>A
NR_135314.1:n.1576G>A
NR_135315.1:n.1329G>A
XM_006717819.3:c.*259G>A	XP_006717882.1:n.*259G>A
XM_011539764.2:c.*259G>A	XP_011538066.1:n.*259G>A
XM_011539765.2:c.*259G>A	XP_011538067.1:n.*259G>A
XM_011539766.2:c.*259G>A	XP_011538068.1:n.*259G>A
XM_011539767.3:c.*259G>A	XP_011538069.1:n.*259G>A
XR_945732.3:n.1335G>A
XR_945733.2:n.1272G>A
NM_000043.6:c.*259G>A MANE Select	NP_000034.1:n.*259G>A
NM_001320619.2:c.*590G>A	NP_001307548.1:n.*590G>A
NM_152871.4:c.*259G>A	NP_690610.1:n.*259G>A
NM_152872.4:c.*579G>A	NP_690611.1:n.*579G>A
NR_028033.4:n.1174G>A
NR_028034.4:n.1036G>A
NR_028035.4:n.1099G>A
NR_028036.4:n.1237G>A
NR_135313.2:n.1154G>A
NR_135314.2:n.1433G>A
NR_135315.2:n.1186G>A

Linked Data

Genomic Alleles

Transcript Alleles