Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014703T>A , CM000672.2:g.89014703T>A	GRCh38
NC_000010.10:g.90774460T>A , CM000672.1:g.90774460T>A	GRCh37
NC_000010.9:g.90764440T>A	NCBI36
NG_009089.2:g.29173T>A , LRG_134:g.29173T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1570T>A
ENST00000355740.8:c.*584T>A	ENSP00000347979.3:n.*584T>A
ENST00000357339.7:c.*253T>A	ENSP00000349896.2:n.*253T>A
ENST00000371857.8:n.2806T>A
ENST00000460510.6:c.*253T>A	ENSP00000512812.1:n.*253T>A
ENST00000466081.6:n.2910T>A
ENST00000477270.6:c.*253T>A	ENSP00000512813.1:n.*253T>A
ENST00000492756.7:c.*690T>A	ENSP00000422453.1:n.*690T>A
ENST00000494799.6:c.*253T>A	ENSP00000512834.1:n.*253T>A
ENST00000562983.3:c.*253T>A	ENSP00000512845.1:n.*253T>A
ENST00000612663.6:c.*663T>A	ENSP00000477997.3:n.*663T>A
ENST00000640140.2:n.1406T>A
ENST00000640250.2:n.760T>A
ENST00000640681.2:n.1365T>A
ENST00000696723.1:n.4894T>A
ENST00000696741.1:n.2899T>A
ENST00000696742.1:n.2626T>A
ENST00000696743.1:n.4029T>A
ENST00000696744.1:n.1300T>A
ENST00000696767.1:n.1595T>A
ENST00000696768.1:c.*584T>A	ENSP00000512859.1:n.*584T>A
ENST00000696771.1:c.*253T>A	ENSP00000512860.1:n.*253T>A
ENST00000696772.1:n.2864T>A
ENST00000696773.1:n.2603T>A
ENST00000696774.1:n.6371T>A
ENST00000696776.1:c.*253T>A	ENSP00000512861.1:n.*253T>A
ENST00000696777.1:n.2669T>A
ENST00000696778.1:n.1697T>A
ENST00000696779.1:c.*253T>A	ENSP00000512862.1:n.*253T>A
ENST00000696780.1:c.*253T>A	ENSP00000512863.1:n.*253T>A
ENST00000696781.1:c.*253T>A	ENSP00000512864.1:n.*253T>A
ENST00000696782.1:c.*663T>A	ENSP00000512865.1:n.*663T>A
ENST00000696783.1:n.3129T>A
ENST00000696992.1:n.2378T>A
ENST00000696995.1:n.4790T>A
ENST00000696996.1:n.2703T>A
ENST00000696997.1:c.*891T>A	ENSP00000513028.1:n.*891T>A
ENST00000696998.1:n.2515T>A
ENST00000696999.1:c.*253T>A	ENSP00000513029.1:n.*253T>A
ENST00000697036.1:c.*677T>A	ENSP00000513060.1:n.*677T>A
ENST00000697037.1:n.1296T>A
ENST00000697093.1:n.3497T>A
ENST00000697094.1:n.3844T>A
ENST00000697095.1:c.*2462T>A	ENSP00000513104.1:n.*2462T>A
ENST00000697096.1:n.2394T>A
ENST00000697097.1:c.*253T>A	ENSP00000513105.1:n.*253T>A
ENST00000562983.2:n.1447T>A
ENST00000690268.1:c.*253T>A	ENSP00000509810.1:n.*253T>A
ENST00000355740.7:c.*587T>A	ENSP00000347979.3:n.*587T>A
ENST00000640140.1:n.1433T>A
ENST00000640250.1:n.760T>A
ENST00000640681.1:n.1382T>A
ENST00000652046.1:c.*253T>A MANE Select	ENSP00000498466.1:n.*253T>A
ENST00000352159.8:c.*578T>A	ENSP00000345601.4:n.*578T>A
ENST00000355740.6:c.*253T>A	ENSP00000347979.2:n.*253T>A
NM_000043.4:c.253T>A , LRG_134t1:c.253T>A	NP_000034.1:n.*253T>A
NM_152871.2:c.*253T>A	NP_690610.1:n.*253T>A
NM_152872.2:c.*573T>A	NP_690611.1:n.*573T>A
NR_028033.2:n.1435T>A
NR_028034.2:n.1297T>A
NR_028035.2:n.1360T>A
NR_028036.2:n.1498T>A
XM_006717819.2:c.*253T>A	XP_006717882.1:n.*253T>A
XM_011539764.1:c.*253T>A	XP_011538066.1:n.*253T>A
XM_011539765.1:c.*253T>A	XP_011538067.1:n.*253T>A
XM_011539766.1:c.*253T>A	XP_011538068.1:n.*253T>A
XM_011539767.1:c.*253T>A	XP_011538069.1:n.*253T>A
NM_000043.5:c.*253T>A	NP_000034.1:n.*253T>A
NM_001320619.1:c.*584T>A	NP_001307548.1:n.*584T>A
NM_152871.3:c.*253T>A	NP_690610.1:n.*253T>A
NM_152872.3:c.*573T>A	NP_690611.1:n.*573T>A
NR_028033.3:n.1407T>A
NR_028034.3:n.1269T>A
NR_028035.3:n.1332T>A
NR_028036.3:n.1470T>A
NR_135313.1:n.1387T>A
NR_135314.1:n.1570T>A
NR_135315.1:n.1323T>A
XM_006717819.3:c.*253T>A	XP_006717882.1:n.*253T>A
XM_011539764.2:c.*253T>A	XP_011538066.1:n.*253T>A
XM_011539765.2:c.*253T>A	XP_011538067.1:n.*253T>A
XM_011539766.2:c.*253T>A	XP_011538068.1:n.*253T>A
XM_011539767.3:c.*253T>A	XP_011538069.1:n.*253T>A
XR_945732.3:n.1329T>A
XR_945733.2:n.1266T>A
NM_000043.6:c.*253T>A MANE Select	NP_000034.1:n.*253T>A
NM_001320619.2:c.*584T>A	NP_001307548.1:n.*584T>A
NM_152871.4:c.*253T>A	NP_690610.1:n.*253T>A
NM_152872.4:c.*573T>A	NP_690611.1:n.*573T>A
NR_028033.4:n.1168T>A
NR_028034.4:n.1030T>A
NR_028035.4:n.1093T>A
NR_028036.4:n.1231T>A
NR_135313.2:n.1148T>A
NR_135314.2:n.1427T>A
NR_135315.2:n.1180T>A

Linked Data

Genomic Alleles

Transcript Alleles