Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014700G>A , CM000672.2:g.89014700G>A	GRCh38
NC_000010.10:g.90774457G>A , CM000672.1:g.90774457G>A	GRCh37
NC_000010.9:g.90764437G>A	NCBI36
NG_009089.2:g.29170G>A , LRG_134:g.29170G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1567G>A
ENST00000355740.8:c.*581G>A	ENSP00000347979.3:n.*581G>A
ENST00000357339.7:c.*250G>A	ENSP00000349896.2:n.*250G>A
ENST00000371857.8:n.2803G>A
ENST00000460510.6:c.*250G>A	ENSP00000512812.1:n.*250G>A
ENST00000466081.6:n.2907G>A
ENST00000477270.6:c.*250G>A	ENSP00000512813.1:n.*250G>A
ENST00000492756.7:c.*687G>A	ENSP00000422453.1:n.*687G>A
ENST00000494799.6:c.*250G>A	ENSP00000512834.1:n.*250G>A
ENST00000562983.3:c.*250G>A	ENSP00000512845.1:n.*250G>A
ENST00000612663.6:c.*660G>A	ENSP00000477997.3:n.*660G>A
ENST00000640140.2:n.1403G>A
ENST00000640250.2:n.757G>A
ENST00000640681.2:n.1362G>A
ENST00000696723.1:n.4891G>A
ENST00000696741.1:n.2896G>A
ENST00000696742.1:n.2623G>A
ENST00000696743.1:n.4026G>A
ENST00000696744.1:n.1297G>A
ENST00000696767.1:n.1592G>A
ENST00000696768.1:c.*581G>A	ENSP00000512859.1:n.*581G>A
ENST00000696771.1:c.*250G>A	ENSP00000512860.1:n.*250G>A
ENST00000696772.1:n.2861G>A
ENST00000696773.1:n.2600G>A
ENST00000696774.1:n.6368G>A
ENST00000696776.1:c.*250G>A	ENSP00000512861.1:n.*250G>A
ENST00000696777.1:n.2666G>A
ENST00000696778.1:n.1694G>A
ENST00000696779.1:c.*250G>A	ENSP00000512862.1:n.*250G>A
ENST00000696780.1:c.*250G>A	ENSP00000512863.1:n.*250G>A
ENST00000696781.1:c.*250G>A	ENSP00000512864.1:n.*250G>A
ENST00000696782.1:c.*660G>A	ENSP00000512865.1:n.*660G>A
ENST00000696783.1:n.3126G>A
ENST00000696992.1:n.2375G>A
ENST00000696995.1:n.4787G>A
ENST00000696996.1:n.2700G>A
ENST00000696997.1:c.*888G>A	ENSP00000513028.1:n.*888G>A
ENST00000696998.1:n.2512G>A
ENST00000696999.1:c.*250G>A	ENSP00000513029.1:n.*250G>A
ENST00000697036.1:c.*674G>A	ENSP00000513060.1:n.*674G>A
ENST00000697037.1:n.1293G>A
ENST00000697093.1:n.3494G>A
ENST00000697094.1:n.3841G>A
ENST00000697095.1:c.*2459G>A	ENSP00000513104.1:n.*2459G>A
ENST00000697096.1:n.2391G>A
ENST00000697097.1:c.*250G>A	ENSP00000513105.1:n.*250G>A
ENST00000562983.2:n.1444G>A
ENST00000690268.1:c.*250G>A	ENSP00000509810.1:n.*250G>A
ENST00000355740.7:c.*584G>A	ENSP00000347979.3:n.*584G>A
ENST00000640140.1:n.1430G>A
ENST00000640250.1:n.757G>A
ENST00000640681.1:n.1379G>A
ENST00000652046.1:c.*250G>A MANE Select	ENSP00000498466.1:n.*250G>A
ENST00000352159.8:c.*575G>A	ENSP00000345601.4:n.*575G>A
ENST00000355740.6:c.*250G>A	ENSP00000347979.2:n.*250G>A
NM_000043.4:c.250G>A , LRG_134t1:c.250G>A	NP_000034.1:n.*250G>A
NM_152871.2:c.*250G>A	NP_690610.1:n.*250G>A
NM_152872.2:c.*570G>A	NP_690611.1:n.*570G>A
NR_028033.2:n.1432G>A
NR_028034.2:n.1294G>A
NR_028035.2:n.1357G>A
NR_028036.2:n.1495G>A
XM_006717819.2:c.*250G>A	XP_006717882.1:n.*250G>A
XM_011539764.1:c.*250G>A	XP_011538066.1:n.*250G>A
XM_011539765.1:c.*250G>A	XP_011538067.1:n.*250G>A
XM_011539766.1:c.*250G>A	XP_011538068.1:n.*250G>A
XM_011539767.1:c.*250G>A	XP_011538069.1:n.*250G>A
NM_000043.5:c.*250G>A	NP_000034.1:n.*250G>A
NM_001320619.1:c.*581G>A	NP_001307548.1:n.*581G>A
NM_152871.3:c.*250G>A	NP_690610.1:n.*250G>A
NM_152872.3:c.*570G>A	NP_690611.1:n.*570G>A
NR_028033.3:n.1404G>A
NR_028034.3:n.1266G>A
NR_028035.3:n.1329G>A
NR_028036.3:n.1467G>A
NR_135313.1:n.1384G>A
NR_135314.1:n.1567G>A
NR_135315.1:n.1320G>A
XM_006717819.3:c.*250G>A	XP_006717882.1:n.*250G>A
XM_011539764.2:c.*250G>A	XP_011538066.1:n.*250G>A
XM_011539765.2:c.*250G>A	XP_011538067.1:n.*250G>A
XM_011539766.2:c.*250G>A	XP_011538068.1:n.*250G>A
XM_011539767.3:c.*250G>A	XP_011538069.1:n.*250G>A
XR_945732.3:n.1326G>A
XR_945733.2:n.1263G>A
NM_000043.6:c.*250G>A MANE Select	NP_000034.1:n.*250G>A
NM_001320619.2:c.*581G>A	NP_001307548.1:n.*581G>A
NM_152871.4:c.*250G>A	NP_690610.1:n.*250G>A
NM_152872.4:c.*570G>A	NP_690611.1:n.*570G>A
NR_028033.4:n.1165G>A
NR_028034.4:n.1027G>A
NR_028035.4:n.1090G>A
NR_028036.4:n.1228G>A
NR_135313.2:n.1145G>A
NR_135314.2:n.1424G>A
NR_135315.2:n.1177G>A

Linked Data

Genomic Alleles

Transcript Alleles