Canonical Allele Identifier: CA348389868

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127286883G>A , CM000664.2:g.127286883G>A	GRCh38
NC_000002.11:g.128044459G>A , CM000664.1:g.128044459G>A	GRCh37
NC_000002.10:g.127760929G>A	NCBI36
NG_007454.1:g.12294C>T , LRG_462:g.12294C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000122.2:c.1162C>T MANE Select	NP_000113.1:p.Gln388Ter
ENST00000285398.7:c.1162C>T MANE Select	ENSP00000285398.2:p.Gln388Ter
NM_000122.1:c.1162C>T , LRG_462t1:c.1162C>T	NP_000113.1:p.Gln388Ter
NM_001303416.1:c.970C>T	NP_001290345.1:p.Gln324Ter
NM_001303416.2:c.970C>T	NP_001290345.1:p.Gln324Ter
NM_001303418.1:c.970C>T	NP_001290347.1:p.Gln324Ter
NM_001303418.2:c.970C>T	NP_001290347.1:p.Gln324Ter
ENST00000285398.6:c.1162C>T	ENSP00000285398.2:p.Gln388Ter
ENST00000426778.5:c.*1143C>T	ENSP00000415335.1:n.*1143C>T
ENST00000445889.5:c.*1205C>T	ENSP00000390888.1:n.*1205C>T
ENST00000494464.5:n.1233C>T
ENST00000644317.1:c.*651C>T	ENSP00000494012.1:n.*651C>T
ENST00000645233.1:c.*1374C>T	ENSP00000494116.1:n.*1374C>T
ENST00000645467.1:c.1162C>T	ENSP00000494889.1:p.Gln388Ter
ENST00000645736.1:c.1018C>T	ENSP00000494545.1:p.Gln340Ter
ENST00000646042.1:n.1897C>T
ENST00000646654.1:c.*629C>T	ENSP00000494526.1:n.*629C>T
ENST00000647169.1:c.1162C>T	ENSP00000495619.1:p.Gln388Ter
ENST00000647496.1:c.395+2454C>T
XM_011510794.1:c.1180C>T	XP_011509096.1:p.Gln394Ter
XM_011510794.2:c.1180C>T	XP_011509096.1:p.Gln394Ter
XM_011510795.1:c.724C>T	XP_011509097.1:p.Gln242Ter
XM_017003583.1:c.706C>T	XP_016859072.1:p.Gln236Ter