Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014713G>A , CM000672.2:g.89014713G>A	GRCh38
NC_000010.10:g.90774470G>A , CM000672.1:g.90774470G>A	GRCh37
NC_000010.9:g.90764450G>A	NCBI36
NG_009089.2:g.29183G>A , LRG_134:g.29183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1580G>A
ENST00000355740.8:c.*594G>A	ENSP00000347979.3:n.*594G>A
ENST00000357339.7:c.*263G>A	ENSP00000349896.2:n.*263G>A
ENST00000371857.8:n.2816G>A
ENST00000460510.6:c.*263G>A	ENSP00000512812.1:n.*263G>A
ENST00000466081.6:n.2920G>A
ENST00000477270.6:c.*263G>A	ENSP00000512813.1:n.*263G>A
ENST00000492756.7:c.*700G>A	ENSP00000422453.1:n.*700G>A
ENST00000494799.6:c.*263G>A	ENSP00000512834.1:n.*263G>A
ENST00000562983.3:c.*263G>A	ENSP00000512845.1:n.*263G>A
ENST00000612663.6:c.*673G>A	ENSP00000477997.3:n.*673G>A
ENST00000640140.2:n.1416G>A
ENST00000640250.2:n.770G>A
ENST00000640681.2:n.1375G>A
ENST00000696723.1:n.4904G>A
ENST00000696741.1:n.2909G>A
ENST00000696742.1:n.2636G>A
ENST00000696743.1:n.4039G>A
ENST00000696744.1:n.1310G>A
ENST00000696767.1:n.1605G>A
ENST00000696768.1:c.*594G>A	ENSP00000512859.1:n.*594G>A
ENST00000696771.1:c.*263G>A	ENSP00000512860.1:n.*263G>A
ENST00000696772.1:n.2874G>A
ENST00000696773.1:n.2613G>A
ENST00000696774.1:n.6381G>A
ENST00000696776.1:c.*263G>A	ENSP00000512861.1:n.*263G>A
ENST00000696777.1:n.2679G>A
ENST00000696778.1:n.1707G>A
ENST00000696779.1:c.*263G>A	ENSP00000512862.1:n.*263G>A
ENST00000696780.1:c.*263G>A	ENSP00000512863.1:n.*263G>A
ENST00000696781.1:c.*263G>A	ENSP00000512864.1:n.*263G>A
ENST00000696782.1:c.*673G>A	ENSP00000512865.1:n.*673G>A
ENST00000696783.1:n.3139G>A
ENST00000696992.1:n.2388G>A
ENST00000696995.1:n.4800G>A
ENST00000696996.1:n.2713G>A
ENST00000696997.1:c.*901G>A	ENSP00000513028.1:n.*901G>A
ENST00000696998.1:n.2525G>A
ENST00000696999.1:c.*263G>A	ENSP00000513029.1:n.*263G>A
ENST00000697036.1:c.*687G>A	ENSP00000513060.1:n.*687G>A
ENST00000697037.1:n.1306G>A
ENST00000697093.1:n.3507G>A
ENST00000697094.1:n.3854G>A
ENST00000697095.1:c.*2472G>A	ENSP00000513104.1:n.*2472G>A
ENST00000697096.1:n.2404G>A
ENST00000697097.1:c.*263G>A	ENSP00000513105.1:n.*263G>A
ENST00000562983.2:n.1457G>A
ENST00000690268.1:c.*263G>A	ENSP00000509810.1:n.*263G>A
ENST00000355740.7:c.*597G>A	ENSP00000347979.3:n.*597G>A
ENST00000640140.1:n.1443G>A
ENST00000640250.1:n.770G>A
ENST00000640681.1:n.1392G>A
ENST00000652046.1:c.*263G>A MANE Select	ENSP00000498466.1:n.*263G>A
ENST00000352159.8:c.*588G>A	ENSP00000345601.4:n.*588G>A
ENST00000355740.6:c.*263G>A	ENSP00000347979.2:n.*263G>A
NM_000043.4:c.263G>A , LRG_134t1:c.263G>A	NP_000034.1:n.*263G>A
NM_152871.2:c.*263G>A	NP_690610.1:n.*263G>A
NM_152872.2:c.*583G>A	NP_690611.1:n.*583G>A
NR_028033.2:n.1445G>A
NR_028034.2:n.1307G>A
NR_028035.2:n.1370G>A
NR_028036.2:n.1508G>A
XM_006717819.2:c.*263G>A	XP_006717882.1:n.*263G>A
XM_011539764.1:c.*263G>A	XP_011538066.1:n.*263G>A
XM_011539765.1:c.*263G>A	XP_011538067.1:n.*263G>A
XM_011539766.1:c.*263G>A	XP_011538068.1:n.*263G>A
XM_011539767.1:c.*263G>A	XP_011538069.1:n.*263G>A
NM_000043.5:c.*263G>A	NP_000034.1:n.*263G>A
NM_001320619.1:c.*594G>A	NP_001307548.1:n.*594G>A
NM_152871.3:c.*263G>A	NP_690610.1:n.*263G>A
NM_152872.3:c.*583G>A	NP_690611.1:n.*583G>A
NR_028033.3:n.1417G>A
NR_028034.3:n.1279G>A
NR_028035.3:n.1342G>A
NR_028036.3:n.1480G>A
NR_135313.1:n.1397G>A
NR_135314.1:n.1580G>A
NR_135315.1:n.1333G>A
XM_006717819.3:c.*263G>A	XP_006717882.1:n.*263G>A
XM_011539764.2:c.*263G>A	XP_011538066.1:n.*263G>A
XM_011539765.2:c.*263G>A	XP_011538067.1:n.*263G>A
XM_011539766.2:c.*263G>A	XP_011538068.1:n.*263G>A
XM_011539767.3:c.*263G>A	XP_011538069.1:n.*263G>A
XR_945732.3:n.1339G>A
XR_945733.2:n.1276G>A
NM_000043.6:c.*263G>A MANE Select	NP_000034.1:n.*263G>A
NM_001320619.2:c.*594G>A	NP_001307548.1:n.*594G>A
NM_152871.4:c.*263G>A	NP_690610.1:n.*263G>A
NM_152872.4:c.*583G>A	NP_690611.1:n.*583G>A
NR_028033.4:n.1178G>A
NR_028034.4:n.1040G>A
NR_028035.4:n.1103G>A
NR_028036.4:n.1241G>A
NR_135313.2:n.1158G>A
NR_135314.2:n.1437G>A
NR_135315.2:n.1190G>A

Linked Data

Genomic Alleles

Transcript Alleles