Canonical Allele Identifier: CA1858154

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127271427C>T , CM000664.2:g.127271427C>T	GRCh38
NC_000002.11:g.128029003C>T , CM000664.1:g.128029003C>T	GRCh37
NC_000002.10:g.127745473C>T	NCBI36
NG_007454.1:g.27750G>A , LRG_462:g.27750G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000122.2:c.1854G>A MANE Select	NP_000113.1:p.Pro618=
ENST00000285398.7:c.1854G>A MANE Select	ENSP00000285398.2:p.Pro618=
NM_000122.1:c.1854G>A , LRG_462t1:c.1854G>A	NP_000113.1:p.Pro618=
NM_001303416.1:c.1662G>A	NP_001290345.1:p.Pro554=
NM_001303416.2:c.1662G>A	NP_001290345.1:p.Pro554=
NM_001303418.1:c.1662G>A	NP_001290347.1:p.Pro554=
NM_001303418.2:c.1662G>A	NP_001290347.1:p.Pro554=
ENST00000285398.6:c.1854G>A	ENSP00000285398.2:p.Pro618=
ENST00000426778.5:c.*1835G>A	ENSP00000415335.1:n.*1835G>A
ENST00000445889.5:c.*1897G>A	ENSP00000390888.1:n.*1897G>A
ENST00000642972.1:n.213G>A
ENST00000644317.1:c.*1343G>A	ENSP00000494012.1:n.*1343G>A
ENST00000645233.1:c.*2066G>A	ENSP00000494116.1:n.*2066G>A
ENST00000645467.1:c.*626G>A	ENSP00000494889.1:n.*626G>A
ENST00000645504.1:c.510G>A
ENST00000645736.1:c.1525G>A	ENSP00000494545.1:n.1525G>A
ENST00000646042.1:n.2589G>A
ENST00000646654.1:c.*1321G>A	ENSP00000494526.1:n.*1321G>A
ENST00000647169.1:c.1929G>A	ENSP00000495619.1:p.Pro643=
ENST00000647496.1:c.396-13825G>A
XM_011510794.1:c.1872G>A	XP_011509096.1:p.Pro624=
XM_011510794.2:c.1872G>A	XP_011509096.1:p.Pro624=
XM_011510795.1:c.1416G>A	XP_011509097.1:p.Pro472=
XM_017003583.1:c.1398G>A	XP_016859072.1:p.Pro466=