Canonical Allele Identifier: CA348389568

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127286745C>A , CM000664.2:g.127286745C>A	GRCh38
NC_000002.11:g.128044321C>A , CM000664.1:g.128044321C>A	GRCh37
NC_000002.10:g.127760791C>A	NCBI36
NG_007454.1:g.12432G>T , LRG_462:g.12432G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000122.2:c.1300G>T MANE Select	NP_000113.1:p.Glu434Ter
ENST00000285398.7:c.1300G>T MANE Select	ENSP00000285398.2:p.Glu434Ter
NM_000122.1:c.1300G>T , LRG_462t1:c.1300G>T	NP_000113.1:p.Glu434Ter
NM_001303416.1:c.1108G>T	NP_001290345.1:p.Glu370Ter
NM_001303416.2:c.1108G>T	NP_001290345.1:p.Glu370Ter
NM_001303418.1:c.1108G>T	NP_001290347.1:p.Glu370Ter
NM_001303418.2:c.1108G>T	NP_001290347.1:p.Glu370Ter
ENST00000285398.6:c.1300G>T	ENSP00000285398.2:p.Glu434Ter
ENST00000426778.5:c.*1281G>T	ENSP00000415335.1:n.*1281G>T
ENST00000445889.5:c.*1343G>T	ENSP00000390888.1:n.*1343G>T
ENST00000644317.1:c.*789G>T	ENSP00000494012.1:n.*789G>T
ENST00000645233.1:c.*1512G>T	ENSP00000494116.1:n.*1512G>T
ENST00000645467.1:c.1300G>T	ENSP00000494889.1:p.Glu434Ter
ENST00000645504.1:c.53G>T
ENST00000645736.1:c.1156G>T	ENSP00000494545.1:p.Glu386Ter
ENST00000646042.1:n.2035G>T
ENST00000646654.1:c.*767G>T	ENSP00000494526.1:n.*767G>T
ENST00000647169.1:c.1300G>T	ENSP00000495619.1:p.Glu434Ter
ENST00000647496.1:c.395+2592G>T
XM_011510794.1:c.1318G>T	XP_011509096.1:p.Glu440Ter
XM_011510794.2:c.1318G>T	XP_011509096.1:p.Glu440Ter
XM_011510795.1:c.862G>T	XP_011509097.1:p.Glu288Ter
XM_017003583.1:c.844G>T	XP_016859072.1:p.Glu282Ter