Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014695G>A , CM000672.2:g.89014695G>A	GRCh38
NC_000010.10:g.90774452G>A , CM000672.1:g.90774452G>A	GRCh37
NC_000010.9:g.90764432G>A	NCBI36
NG_009089.2:g.29165G>A , LRG_134:g.29165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1562G>A
ENST00000355740.8:c.*576G>A	ENSP00000347979.3:n.*576G>A
ENST00000357339.7:c.*245G>A	ENSP00000349896.2:n.*245G>A
ENST00000371857.8:n.2798G>A
ENST00000460510.6:c.*245G>A	ENSP00000512812.1:n.*245G>A
ENST00000466081.6:n.2902G>A
ENST00000477270.6:c.*245G>A	ENSP00000512813.1:n.*245G>A
ENST00000492756.7:c.*682G>A	ENSP00000422453.1:n.*682G>A
ENST00000494799.6:c.*245G>A	ENSP00000512834.1:n.*245G>A
ENST00000562983.3:c.*245G>A	ENSP00000512845.1:n.*245G>A
ENST00000612663.6:c.*655G>A	ENSP00000477997.3:n.*655G>A
ENST00000640140.2:n.1398G>A
ENST00000640250.2:n.752G>A
ENST00000640681.2:n.1357G>A
ENST00000696723.1:n.4886G>A
ENST00000696741.1:n.2891G>A
ENST00000696742.1:n.2618G>A
ENST00000696743.1:n.4021G>A
ENST00000696744.1:n.1292G>A
ENST00000696767.1:n.1587G>A
ENST00000696768.1:c.*576G>A	ENSP00000512859.1:n.*576G>A
ENST00000696771.1:c.*245G>A	ENSP00000512860.1:n.*245G>A
ENST00000696772.1:n.2856G>A
ENST00000696773.1:n.2595G>A
ENST00000696774.1:n.6363G>A
ENST00000696776.1:c.*245G>A	ENSP00000512861.1:n.*245G>A
ENST00000696777.1:n.2661G>A
ENST00000696778.1:n.1689G>A
ENST00000696779.1:c.*245G>A	ENSP00000512862.1:n.*245G>A
ENST00000696780.1:c.*245G>A	ENSP00000512863.1:n.*245G>A
ENST00000696781.1:c.*245G>A	ENSP00000512864.1:n.*245G>A
ENST00000696782.1:c.*655G>A	ENSP00000512865.1:n.*655G>A
ENST00000696783.1:n.3121G>A
ENST00000696992.1:n.2370G>A
ENST00000696995.1:n.4782G>A
ENST00000696996.1:n.2695G>A
ENST00000696997.1:c.*883G>A	ENSP00000513028.1:n.*883G>A
ENST00000696998.1:n.2507G>A
ENST00000696999.1:c.*245G>A	ENSP00000513029.1:n.*245G>A
ENST00000697036.1:c.*669G>A	ENSP00000513060.1:n.*669G>A
ENST00000697037.1:n.1288G>A
ENST00000697093.1:n.3489G>A
ENST00000697094.1:n.3836G>A
ENST00000697095.1:c.*2454G>A	ENSP00000513104.1:n.*2454G>A
ENST00000697096.1:n.2386G>A
ENST00000697097.1:c.*245G>A	ENSP00000513105.1:n.*245G>A
ENST00000562983.2:n.1439G>A
ENST00000690268.1:c.*245G>A	ENSP00000509810.1:n.*245G>A
ENST00000355740.7:c.*579G>A	ENSP00000347979.3:n.*579G>A
ENST00000640140.1:n.1425G>A
ENST00000640250.1:n.752G>A
ENST00000640681.1:n.1374G>A
ENST00000652046.1:c.*245G>A MANE Select	ENSP00000498466.1:n.*245G>A
ENST00000352159.8:c.*570G>A	ENSP00000345601.4:n.*570G>A
ENST00000355740.6:c.*245G>A	ENSP00000347979.2:n.*245G>A
NM_000043.4:c.245G>A , LRG_134t1:c.245G>A	NP_000034.1:n.*245G>A
NM_152871.2:c.*245G>A	NP_690610.1:n.*245G>A
NM_152872.2:c.*565G>A	NP_690611.1:n.*565G>A
NR_028033.2:n.1427G>A
NR_028034.2:n.1289G>A
NR_028035.2:n.1352G>A
NR_028036.2:n.1490G>A
XM_006717819.2:c.*245G>A	XP_006717882.1:n.*245G>A
XM_011539764.1:c.*245G>A	XP_011538066.1:n.*245G>A
XM_011539765.1:c.*245G>A	XP_011538067.1:n.*245G>A
XM_011539766.1:c.*245G>A	XP_011538068.1:n.*245G>A
XM_011539767.1:c.*245G>A	XP_011538069.1:n.*245G>A
NM_000043.5:c.*245G>A	NP_000034.1:n.*245G>A
NM_001320619.1:c.*576G>A	NP_001307548.1:n.*576G>A
NM_152871.3:c.*245G>A	NP_690610.1:n.*245G>A
NM_152872.3:c.*565G>A	NP_690611.1:n.*565G>A
NR_028033.3:n.1399G>A
NR_028034.3:n.1261G>A
NR_028035.3:n.1324G>A
NR_028036.3:n.1462G>A
NR_135313.1:n.1379G>A
NR_135314.1:n.1562G>A
NR_135315.1:n.1315G>A
XM_006717819.3:c.*245G>A	XP_006717882.1:n.*245G>A
XM_011539764.2:c.*245G>A	XP_011538066.1:n.*245G>A
XM_011539765.2:c.*245G>A	XP_011538067.1:n.*245G>A
XM_011539766.2:c.*245G>A	XP_011538068.1:n.*245G>A
XM_011539767.3:c.*245G>A	XP_011538069.1:n.*245G>A
XR_945732.3:n.1321G>A
XR_945733.2:n.1258G>A
NM_000043.6:c.*245G>A MANE Select	NP_000034.1:n.*245G>A
NM_001320619.2:c.*576G>A	NP_001307548.1:n.*576G>A
NM_152871.4:c.*245G>A	NP_690610.1:n.*245G>A
NM_152872.4:c.*565G>A	NP_690611.1:n.*565G>A
NR_028033.4:n.1160G>A
NR_028034.4:n.1022G>A
NR_028035.4:n.1085G>A
NR_028036.4:n.1223G>A
NR_135313.2:n.1140G>A
NR_135314.2:n.1419G>A
NR_135315.2:n.1172G>A

Linked Data

Genomic Alleles

Transcript Alleles