Canonical Allele Identifier: CA1858281

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127280620G>A , CM000664.2:g.127280620G>A	GRCh38
NC_000002.11:g.128038196G>A , CM000664.1:g.128038196G>A	GRCh37
NC_000002.10:g.127754666G>A	NCBI36
NG_007454.1:g.18557C>T , LRG_462:g.18557C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000122.2:c.1354C>T MANE Select	NP_000113.1:p.Arg452Ter
ENST00000285398.7:c.1354C>T MANE Select	ENSP00000285398.2:p.Arg452Ter
NM_000122.1:c.1354C>T , LRG_462t1:c.1354C>T	NP_000113.1:p.Arg452Ter
NM_001303416.1:c.1162C>T	NP_001290345.1:p.Arg388Ter
NM_001303416.2:c.1162C>T	NP_001290345.1:p.Arg388Ter
NM_001303418.1:c.1162C>T	NP_001290347.1:p.Arg388Ter
NM_001303418.2:c.1162C>T	NP_001290347.1:p.Arg388Ter
ENST00000285398.6:c.1354C>T	ENSP00000285398.2:p.Arg452Ter
ENST00000426778.5:c.*1335C>T	ENSP00000415335.1:n.*1335C>T
ENST00000445889.5:c.*1397C>T	ENSP00000390888.1:n.*1397C>T
ENST00000644317.1:c.*843C>T	ENSP00000494012.1:n.*843C>T
ENST00000645233.1:c.*1566C>T	ENSP00000494116.1:n.*1566C>T
ENST00000645467.1:c.*126C>T	ENSP00000494889.1:n.*126C>T
ENST00000645504.1:c.107C>T
ENST00000645736.1:c.1199-1245C>T	ENSP00000494545.1:n.1199-1245C>T
ENST00000646042.1:n.2089C>T
ENST00000646654.1:c.*821C>T	ENSP00000494526.1:n.*821C>T
ENST00000647169.1:c.1429C>T	ENSP00000495619.1:p.Arg477Ter
ENST00000647496.1:c.395+8717C>T
XM_011510794.1:c.1372C>T	XP_011509096.1:p.Arg458Ter
XM_011510794.2:c.1372C>T	XP_011509096.1:p.Arg458Ter
XM_011510795.1:c.916C>T	XP_011509097.1:p.Arg306Ter
XM_017003583.1:c.898C>T	XP_016859072.1:p.Arg300Ter