Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014120T>A , CM000672.2:g.89014120T>A	GRCh38
NC_000010.10:g.90773877T>A , CM000672.1:g.90773877T>A	GRCh37
NC_000010.9:g.90763857T>A	NCBI36
NG_009089.2:g.28590T>A , LRG_134:g.28590T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.987T>A
ENST00000355740.8:c.*1T>A	ENSP00000347979.3:n.*1T>A
ENST00000357339.7:c.615T>A	ENSP00000349896.2:p.Asp205Glu
ENST00000371857.8:n.2223T>A
ENST00000460510.6:c.-40T>A	ENSP00000512812.1:n.-40T>A
ENST00000466081.6:n.2327T>A
ENST00000477270.6:c.723T>A	ENSP00000512813.1:p.Asp241Glu
ENST00000479522.6:c.*107T>A	ENSP00000424113.1:n.*107T>A
ENST00000484444.6:c.*119T>A	ENSP00000420975.1:n.*119T>A
ENST00000488877.6:c.569T>A	ENSP00000425159.1:n.569T>A
ENST00000492756.7:c.*107T>A	ENSP00000422453.1:n.*107T>A
ENST00000494799.6:c.-40T>A	ENSP00000512834.1:n.-40T>A
ENST00000562983.3:c.-40T>A	ENSP00000512845.1:n.-40T>A
ENST00000612663.6:c.*80T>A	ENSP00000477997.3:n.*80T>A
ENST00000640140.2:n.823T>A
ENST00000640250.2:n.177T>A
ENST00000640681.2:n.782T>A
ENST00000696723.1:n.4311T>A
ENST00000696741.1:n.2316T>A
ENST00000696742.1:n.2043T>A
ENST00000696743.1:n.3446T>A
ENST00000696744.1:n.717T>A
ENST00000696767.1:n.1012T>A
ENST00000696768.1:c.*1T>A	ENSP00000512859.1:n.*1T>A
ENST00000696769.1:n.2367T>A
ENST00000696771.1:c.-40T>A	ENSP00000512860.1:n.-40T>A
ENST00000696772.1:n.2281T>A
ENST00000696773.1:n.2020T>A
ENST00000696774.1:n.5788T>A
ENST00000696776.1:c.771T>A	ENSP00000512861.1:p.Asp257Glu
ENST00000696777.1:n.2086T>A
ENST00000696778.1:n.1114T>A
ENST00000696779.1:c.285T>A	ENSP00000512862.1:p.Asp95Glu
ENST00000696780.1:c.708T>A	ENSP00000512863.1:p.Asp236Glu
ENST00000696781.1:c.423T>A	ENSP00000512864.1:p.Asp141Glu
ENST00000696782.1:c.*80T>A	ENSP00000512865.1:n.*80T>A
ENST00000696783.1:n.2546T>A
ENST00000696992.1:n.1795T>A
ENST00000696995.1:n.4207T>A
ENST00000696996.1:n.2120T>A
ENST00000696997.1:c.*308T>A	ENSP00000513028.1:n.*308T>A
ENST00000696998.1:n.1932T>A
ENST00000696999.1:c.-40T>A	ENSP00000513029.1:n.-40T>A
ENST00000697035.1:c.*11T>A	ENSP00000513059.1:n.*11T>A
ENST00000697036.1:c.*94T>A	ENSP00000513060.1:n.*94T>A
ENST00000697037.1:n.713T>A
ENST00000697093.1:n.2914T>A
ENST00000697094.1:n.3261T>A
ENST00000697095.1:c.*1879T>A	ENSP00000513104.1:n.*1879T>A
ENST00000697096.1:n.1811T>A
ENST00000697097.1:c.-40T>A	ENSP00000513105.1:n.-40T>A
ENST00000562983.2:n.864T>A
ENST00000690268.1:c.759T>A	ENSP00000509810.1:p.Asp253Glu
ENST00000355740.7:c.*4T>A	ENSP00000347979.3:n.*4T>A
ENST00000612663.5:c.*80T>A	ENSP00000477997.3:n.*80T>A
ENST00000640140.1:n.850T>A
ENST00000640250.1:n.177T>A
ENST00000640681.1:n.799T>A
ENST00000652046.1:c.678T>A MANE Select	ENSP00000498466.1:p.Asp226Glu
ENST00000313771.9:n.987T>A
ENST00000352159.8:c.697T>A	ENSP00000345601.4:p.Cys233Ser
ENST00000355279.2:c.653T>A	ENSP00000347426.2:p.Met218Lys
ENST00000355740.6:c.678T>A	ENSP00000347979.2:p.Asp226Glu
ENST00000357339.6:c.615T>A	ENSP00000349896.2:p.Asp205Glu
ENST00000479522.5:c.*107T>A	ENSP00000424113.1:n.*107T>A
ENST00000484444.5:c.*119T>A	ENSP00000420975.1:n.*119T>A
ENST00000488877.5:c.*119T>A	ENSP00000425159.1:n.*119T>A
ENST00000492756.5:c.506T>A	ENSP00000422453.1:n.506T>A
ENST00000494410.5:c.*36T>A	ENSP00000423755.1:n.*36T>A
ENST00000494799.5:n.585T>A
ENST00000612663.4:c.*25T>A	ENSP00000477997.2:n.*25T>A
ENST00000615406.4:c.678T>A	ENSP00000484575.1:p.Asp226Glu
ENST00000626542.2:c.678T>A	ENSP00000485876.1:p.Asp226Glu
NM_000043.4:c.678T>A , LRG_134t1:c.678T>A	NP_000034.1:p.Asp226Glu
NM_152871.2:c.615T>A	NP_690610.1:p.Asp205Glu
NM_152872.2:c.653T>A	NP_690611.1:p.Met218Lys
NR_028033.2:n.852T>A
NR_028034.2:n.714T>A
NR_028035.2:n.777T>A
NR_028036.2:n.915T>A
XM_006717819.2:c.759T>A	XP_006717882.1:p.Asp253Glu
XM_011539764.1:c.840T>A	XP_011538066.1:p.Asp280Glu
XM_011539765.1:c.777T>A	XP_011538067.1:p.Asp259Glu
XM_011539766.1:c.759T>A	XP_011538068.1:p.Asp253Glu
XM_011539767.1:c.723T>A	XP_011538069.1:p.Asp241Glu
XR_945732.1:n.746T>A
XR_945733.1:n.683T>A
NM_000043.5:c.678T>A	NP_000034.1:p.Asp226Glu
NM_001320619.1:c.*1T>A	NP_001307548.1:n.*1T>A
NM_152871.3:c.615T>A	NP_690610.1:p.Asp205Glu
NM_152872.3:c.653T>A	NP_690611.1:p.Met218Lys
NR_028033.3:n.824T>A
NR_028034.3:n.686T>A
NR_028035.3:n.749T>A
NR_028036.3:n.887T>A
NR_135313.1:n.804T>A
NR_135314.1:n.987T>A
NR_135315.1:n.740T>A
XM_006717819.3:c.759T>A	XP_006717882.1:p.Asp253Glu
XM_011539764.2:c.840T>A	XP_011538066.1:p.Asp280Glu
XM_011539765.2:c.777T>A	XP_011538067.1:p.Asp259Glu
XM_011539766.2:c.759T>A	XP_011538068.1:p.Asp253Glu
XM_011539767.3:c.723T>A	XP_011538069.1:p.Asp241Glu
XR_945732.3:n.746T>A
XR_945733.2:n.683T>A
NM_000043.6:c.678T>A MANE Select	NP_000034.1:p.Asp226Glu
NM_001320619.2:c.*1T>A	NP_001307548.1:n.*1T>A
NM_152871.4:c.615T>A	NP_690610.1:p.Asp205Glu
NM_152872.4:c.653T>A	NP_690611.1:p.Met218Lys
NR_028033.4:n.585T>A
NR_028034.4:n.447T>A
NR_028035.4:n.510T>A
NR_028036.4:n.648T>A
NR_135313.2:n.565T>A
NR_135314.2:n.844T>A
NR_135315.2:n.597T>A

Linked Data

Genomic Alleles

Transcript Alleles