Canonical Allele Identifier: CA1858031

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127257719C>T , CM000664.2:g.127257719C>T	GRCh38
NC_000002.11:g.128015295C>T , CM000664.1:g.128015295C>T	GRCh37
NC_000002.10:g.127731765C>T	NCBI36
NG_007454.1:g.41458G>A , LRG_462:g.41458G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000122.2:c.2226G>A MANE Select	NP_000113.1:p.Arg742=
ENST00000285398.7:c.2226G>A MANE Select	ENSP00000285398.2:p.Arg742=
NM_000122.1:c.2226G>A , LRG_462t1:c.2226G>A	NP_000113.1:p.Arg742=
NM_001303416.1:c.2034G>A	NP_001290345.1:p.Arg678=
NM_001303416.2:c.2034G>A	NP_001290345.1:p.Arg678=
NM_001303418.1:c.2034G>A	NP_001290347.1:p.Arg678=
NM_001303418.2:c.2034G>A	NP_001290347.1:p.Arg678=
ENST00000285398.6:c.2226G>A	ENSP00000285398.2:p.Arg742=
ENST00000426778.5:c.*2207G>A	ENSP00000415335.1:n.*2207G>A
ENST00000445889.5:c.*2269G>A	ENSP00000390888.1:n.*2269G>A
ENST00000491292.5:n.3596G>A
ENST00000644317.1:c.*1715G>A	ENSP00000494012.1:n.*1715G>A
ENST00000645233.1:c.*2438G>A	ENSP00000494116.1:n.*2438G>A
ENST00000645467.1:c.*998G>A	ENSP00000494889.1:n.*998G>A
ENST00000645736.1:c.1897G>A	ENSP00000494545.1:n.1897G>A
ENST00000646042.1:n.2961G>A
ENST00000646654.1:c.*1693G>A	ENSP00000494526.1:n.*1693G>A
ENST00000647169.1:c.2301G>A	ENSP00000495619.1:p.Arg767=
ENST00000647496.1:c.396-117G>A
XM_011510794.1:c.2244G>A	XP_011509096.1:p.Arg748=
XM_011510794.2:c.2244G>A	XP_011509096.1:p.Arg748=
XM_011510795.1:c.1788G>A	XP_011509097.1:p.Arg596=
XM_017003583.1:c.1770G>A	XP_016859072.1:p.Arg590=