Canonical Allele Identifier: CA348387004

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127271348G>A , CM000664.2:g.127271348G>A	GRCh38
NC_000002.11:g.128028924G>A , CM000664.1:g.128028924G>A	GRCh37
NC_000002.10:g.127745394G>A	NCBI36
NG_007454.1:g.27829C>T , LRG_462:g.27829C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000122.2:c.1933C>T MANE Select	NP_000113.1:p.Arg645Ter
ENST00000285398.7:c.1933C>T MANE Select	ENSP00000285398.2:p.Arg645Ter
NM_000122.1:c.1933C>T , LRG_462t1:c.1933C>T	NP_000113.1:p.Arg645Ter
NM_001303416.1:c.1741C>T	NP_001290345.1:p.Arg581Ter
NM_001303416.2:c.1741C>T	NP_001290345.1:p.Arg581Ter
NM_001303418.1:c.1741C>T	NP_001290347.1:p.Arg581Ter
NM_001303418.2:c.1741C>T	NP_001290347.1:p.Arg581Ter
ENST00000285398.6:c.1933C>T	ENSP00000285398.2:p.Arg645Ter
ENST00000426778.5:c.*1914C>T	ENSP00000415335.1:n.*1914C>T
ENST00000445889.5:c.*1976C>T	ENSP00000390888.1:n.*1976C>T
ENST00000642972.1:n.292C>T
ENST00000644317.1:c.*1422C>T	ENSP00000494012.1:n.*1422C>T
ENST00000645233.1:c.*2145C>T	ENSP00000494116.1:n.*2145C>T
ENST00000645467.1:c.*705C>T	ENSP00000494889.1:n.*705C>T
ENST00000645504.1:c.589C>T
ENST00000645736.1:c.1604C>T	ENSP00000494545.1:n.1604C>T
ENST00000646042.1:n.2668C>T
ENST00000646654.1:c.*1400C>T	ENSP00000494526.1:n.*1400C>T
ENST00000647169.1:c.2008C>T	ENSP00000495619.1:p.Arg670Ter
ENST00000647496.1:c.396-13746C>T
XM_011510794.1:c.1951C>T	XP_011509096.1:p.Arg651Ter
XM_011510794.2:c.1951C>T	XP_011509096.1:p.Arg651Ter
XM_011510795.1:c.1495C>T	XP_011509097.1:p.Arg499Ter
XM_017003583.1:c.1477C>T	XP_016859072.1:p.Arg493Ter