Canonical Allele Identifier: CA1286822751
Gene: ERCC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127292762C= , CM000664.2:g.127292762C= GRCh38
NC_000002.11:g.128050338C= , CM000664.1:g.128050338C= GRCh37
NC_000002.10:g.127766808C= NCBI36
NG_007454.1:g.6415G= , LRG_462:g.6415G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000285398.7:c.319G= MANE Select ENSP00000285398.2:p.Val107=
ENST00000642308.1:c.319G= ENSP00000496684.1:p.Val107=
ENST00000644317.1:c.235-58G= ENSP00000494012.1:n.235-58G=
ENST00000645233.1:c.319G= ENSP00000494116.1:p.Val107=
ENST00000645467.1:c.319G= ENSP00000494889.1:p.Val107=
ENST00000645736.1:c.175G= ENSP00000494545.1:p.Val59=
ENST00000646654.1:c.319G= ENSP00000494526.1:p.Val107=
ENST00000647169.1:c.319G= ENSP00000495619.1:p.Val107=
ENST00000285398.6:c.319G= ENSP00000285398.2:p.Val107=
ENST00000426778.5:c.*300G= ENSP00000415335.1:n.*300G=
ENST00000445889.5:c.*362G= ENSP00000390888.1:n.*362G=
ENST00000462306.5:n.291-58G=
ENST00000490062.1:n.307-58G=
ENST00000494464.5:n.261-58G=
NM_000122.1:c.319G= , LRG_462t1:c.319G= NP_000113.1:p.Val107=
NM_001303416.1:c.127G= NP_001290345.1:p.Val43=
NM_001303418.1:c.127G= NP_001290347.1:p.Val43=
XM_011510794.1:c.319G= XP_011509096.1:p.Val107=
XM_011510795.1:c.-80-58G= XP_011509097.1:n.-80-58G=
XM_011510794.2:c.319G= XP_011509096.1:p.Val107=
XM_017003583.1:c.-80-58G= XP_016859072.1:n.-80-58G=
NM_000122.2:c.319G= MANE Select NP_000113.1:p.Val107=
NM_001303416.2:c.127G= NP_001290345.1:p.Val43=
NM_001303418.2:c.127G= NP_001290347.1:p.Val43=