Canonical Allele Identifier: CA1286822720
Gene: ERCC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127292696C= , CM000664.2:g.127292696C= GRCh38
NC_000002.11:g.128050272C= , CM000664.1:g.128050272C= GRCh37
NC_000002.10:g.127766742C= NCBI36
NG_007454.1:g.6481G= , LRG_462:g.6481G=

Transcript Alleles

HGVS Amino-acid change
ENST00000285398.7:c.385G= MANE Select ENSP00000285398.2:p.Val129=
ENST00000642308.1:c.385G= ENSP00000496684.1:p.Val129=
ENST00000644317.1:c.243G= ENSP00000494012.1:p.Ala81=
ENST00000645233.1:c.385G= ENSP00000494116.1:p.Val129=
ENST00000645467.1:c.385G= ENSP00000494889.1:p.Val129=
ENST00000645736.1:c.241G= ENSP00000494545.1:p.Val81=
ENST00000646654.1:c.385G= ENSP00000494526.1:p.Val129=
ENST00000647169.1:c.385G= ENSP00000495619.1:p.Val129=
ENST00000285398.6:c.385G= ENSP00000285398.2:p.Val129=
ENST00000426778.5:c.*366G= ENSP00000415335.1:n.*366G=
ENST00000445889.5:c.*428G= ENSP00000390888.1:n.*428G=
ENST00000462306.5:n.299G=
ENST00000490062.1:n.315G=
ENST00000494464.5:n.269G=
NM_000122.1:c.385G= , LRG_462t1:c.385G= NP_000113.1:p.Val129=
NM_001303416.1:c.193G= NP_001290345.1:p.Val65=
NM_001303418.1:c.193G= NP_001290347.1:p.Val65=
XM_011510794.1:c.385G= XP_011509096.1:p.Val129=
XM_011510795.1:c.-72G= XP_011509097.1:n.-72G=
XM_011510794.2:c.385G= XP_011509096.1:p.Val129=
XM_017003583.1:c.-72G= XP_016859072.1:n.-72G=
NM_000122.2:c.385G= MANE Select NP_000113.1:p.Val129=
NM_001303416.2:c.193G= NP_001290345.1:p.Val65=
NM_001303418.2:c.193G= NP_001290347.1:p.Val65=