Canonical Allele Identifier: CA348388639

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127279315G>A , CM000664.2:g.127279315G>A	GRCh38
NC_000002.11:g.128036891G>A , CM000664.1:g.128036891G>A	GRCh37
NC_000002.10:g.127753361G>A	NCBI36
NG_007454.1:g.19862C>T , LRG_462:g.19862C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000122.2:c.1588C>T MANE Select	NP_000113.1:p.Arg530Ter
ENST00000285398.7:c.1588C>T MANE Select	ENSP00000285398.2:p.Arg530Ter
NM_000122.1:c.1588C>T , LRG_462t1:c.1588C>T	NP_000113.1:p.Arg530Ter
NM_001303416.1:c.1396C>T	NP_001290345.1:p.Arg466Ter
NM_001303416.2:c.1396C>T	NP_001290345.1:p.Arg466Ter
NM_001303418.1:c.1396C>T	NP_001290347.1:p.Arg466Ter
NM_001303418.2:c.1396C>T	NP_001290347.1:p.Arg466Ter
ENST00000285398.6:c.1588C>T	ENSP00000285398.2:p.Arg530Ter
ENST00000426778.5:c.*1569C>T	ENSP00000415335.1:n.*1569C>T
ENST00000445889.5:c.*1631C>T	ENSP00000390888.1:n.*1631C>T
ENST00000644317.1:c.*1077C>T	ENSP00000494012.1:n.*1077C>T
ENST00000645233.1:c.*1800C>T	ENSP00000494116.1:n.*1800C>T
ENST00000645467.1:c.*360C>T	ENSP00000494889.1:n.*360C>T
ENST00000645504.1:c.341C>T
ENST00000645736.1:c.1259C>T	ENSP00000494545.1:n.1259C>T
ENST00000646042.1:n.2323C>T
ENST00000646654.1:c.*1055C>T	ENSP00000494526.1:n.*1055C>T
ENST00000647169.1:c.1663C>T	ENSP00000495619.1:p.Arg555Ter
ENST00000647496.1:c.395+10022C>T
XM_011510794.1:c.1606C>T	XP_011509096.1:p.Arg536Ter
XM_011510794.2:c.1606C>T	XP_011509096.1:p.Arg536Ter
XM_011510795.1:c.1150C>T	XP_011509097.1:p.Arg384Ter
XM_017003583.1:c.1132C>T	XP_016859072.1:p.Arg378Ter