Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498496A>T , CM000672.2:g.121498496A>T	GRCh38
NC_000010.10:g.123258010A>T , CM000672.1:g.123258010A>T	GRCh37
NC_000010.9:g.123248000A>T	NCBI36
NG_012449.1:g.104963T>A
NG_012449.2:g.104963T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1674T>A MANE Plus Clinical	ENSP00000410294.2:p.Asp558Glu
ENST00000351936.11:c.1665T>A	ENSP00000309878.10:p.Asp555Glu
ENST00000638709.2:c.495T>A	ENSP00000491912.2:p.Asp165Glu
ENST00000682296.1:n.1013T>A
ENST00000682550.1:c.1320T>A	ENSP00000507633.1:p.Asp440Glu
ENST00000682772.1:c.495T>A	ENSP00000506848.1:p.Asp165Glu
ENST00000682904.1:n.491T>A
ENST00000683211.1:c.1665T>A	ENSP00000508257.1:p.Asp555Glu
ENST00000683250.1:c.*373T>A	ENSP00000506847.1:n.*373T>A
ENST00000683418.1:n.4012T>A
ENST00000684153.1:c.1320T>A	ENSP00000506937.1:p.Asp440Glu
ENST00000684516.1:n.2684T>A
ENST00000358487.10:c.1671T>A MANE Select	ENSP00000351276.6:p.Asp557Glu
ENST00000336553.10:c.1398T>A	ENSP00000337665.6:p.Asp466Glu
ENST00000346997.6:c.1665T>A	ENSP00000263451.5:p.Asp555Glu
ENST00000351936.10:c.1671T>A	ENSP00000309878.9:p.Asp557Glu
ENST00000356226.8:c.1320T>A	ENSP00000348559.4:p.Asp440Glu
ENST00000357555.9:c.1404T>A	ENSP00000350166.5:p.Asp468Glu
ENST00000358487.9:c.1671T>A	ENSP00000351276.5:p.Asp557Glu
ENST00000360144.7:c.1407T>A	ENSP00000353262.3:p.Asp469Glu
ENST00000369056.5:c.1674T>A	ENSP00000358052.1:p.Asp558Glu
ENST00000369058.7:c.1674T>A	ENSP00000358054.3:p.Asp558Glu
ENST00000369059.5:c.1329T>A	ENSP00000358055.1:p.Asp443Glu
ENST00000369060.8:c.1323T>A	ENSP00000358056.4:p.Asp441Glu
ENST00000369061.8:c.1335T>A	ENSP00000358057.4:p.Asp445Glu
ENST00000429361.5:c.447T>A	ENSP00000404219.1:p.Asp149Glu
ENST00000457416.6:c.1674T>A	ENSP00000410294.2:p.Asp558Glu
ENST00000478859.5:c.987T>A	ENSP00000474011.1:p.Asp329Glu
ENST00000604236.5:c.*718T>A	ENSP00000474109.1:n.*718T>A
ENST00000613048.4:c.1404T>A	ENSP00000484154.1:p.Asp468Glu
NM_000141.4:c.1671T>A	NP_000132.3:p.Asp557Glu
NM_001144913.1:c.1674T>A	NP_001138385.1:p.Asp558Glu
NM_001144914.1:c.1335T>A	NP_001138386.1:p.Asp445Glu
NM_001144915.1:c.1404T>A	NP_001138387.1:p.Asp468Glu
NM_001144916.1:c.1326T>A	NP_001138388.1:p.Asp442Glu
NM_001144917.1:c.1323T>A	NP_001138389.1:p.Asp441Glu
NM_001144918.1:c.1320T>A	NP_001138390.1:p.Asp440Glu
NM_001144919.1:c.1407T>A	NP_001138391.1:p.Asp469Glu
NM_022970.3:c.1674T>A	NP_075259.4:p.Asp558Glu
NM_023029.2:c.1404T>A	NP_075418.1:p.Asp468Glu
NR_073009.1:n.2121T>A
XM_006717708.2:c.1725T>A	XP_006717771.1:p.Asp575Glu
XM_006717709.2:c.1722T>A	XP_006717772.1:p.Asp574Glu
XM_006717710.2:c.1731T>A	XP_006717773.1:p.Asp577Glu
XM_006717711.2:c.1464T>A	XP_006717774.1:p.Asp488Glu
XM_006717712.2:c.1386T>A	XP_006717775.1:p.Asp462Glu
XM_006717713.2:c.1728T>A	XP_006717776.1:p.Asp576Glu
XM_011539510.1:c.987T>A	XP_011537812.1:p.Asp329Glu
NM_001320654.1:c.987T>A	NP_001307583.1:p.Asp329Glu
NM_001320658.1:c.1665T>A	NP_001307587.1:p.Asp555Glu
XM_006717708.3:c.1725T>A	XP_006717771.1:p.Asp575Glu
XM_006717710.4:c.1731T>A	XP_006717773.1:p.Asp577Glu
XM_017015920.2:c.1725T>A	XP_016871409.1:p.Asp575Glu
XM_017015921.2:c.1722T>A	XP_016871410.1:p.Asp574Glu
XM_017015924.2:c.1383T>A	XP_016871413.1:p.Asp461Glu
XM_017015925.2:c.1377T>A	XP_016871414.1:p.Asp459Glu
XM_024447887.1:c.1461T>A	XP_024303655.1:p.Asp487Glu
XM_024447888.1:c.1458T>A	XP_024303656.1:p.Asp486Glu
XM_024447889.1:c.1455T>A	XP_024303657.1:p.Asp485Glu
XM_024447890.1:c.1464T>A	XP_024303658.1:p.Asp488Glu
XM_024447891.1:c.1386T>A	XP_024303659.1:p.Asp462Glu
XM_024447892.1:c.501T>A	XP_024303660.1:p.Asp167Glu
NM_000141.5:c.1671T>A MANE Select	NP_000132.3:p.Asp557Glu
NM_001144917.2:c.1323T>A	NP_001138389.1:p.Asp441Glu
NM_001144918.2:c.1320T>A	NP_001138390.1:p.Asp440Glu
NM_001144919.2:c.1407T>A	NP_001138391.1:p.Asp469Glu
NM_001320658.2:c.1665T>A	NP_001307587.1:p.Asp555Glu
NR_073009.2:n.2107T>A
NM_001144915.2:c.1404T>A	NP_001138387.1:p.Asp468Glu
NM_001144916.2:c.1326T>A	NP_001138388.1:p.Asp442Glu
NM_001320654.2:c.987T>A	NP_001307583.1:p.Asp329Glu

Linked Data

Genomic Alleles

Transcript Alleles