Canonical Allele Identifier: CA348391571

Gene: ERCC3

Linked Data

• MyVariant Identifiers: chr2:g.128050239G>T (hg19) ; chr2:g.127292663G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292663G>T , CM000664.2:g.127292663G>T	GRCh38
NC_000002.11:g.128050239G>T , CM000664.1:g.128050239G>T	GRCh37
NC_000002.10:g.127766709G>T	NCBI36
NG_007454.1:g.6514C>A , LRG_462:g.6514C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285398.7:c.418C>A MANE Select	ENSP00000285398.2:p.Leu140Ile
ENST00000642308.1:c.418C>A	ENSP00000496684.1:p.Leu140Ile
ENST00000644317.1:c.276C>A	ENSP00000494012.1:p.Thr92=
ENST00000645233.1:c.418C>A	ENSP00000494116.1:p.Leu140Ile
ENST00000645467.1:c.418C>A	ENSP00000494889.1:p.Leu140Ile
ENST00000645736.1:c.274C>A	ENSP00000494545.1:p.Leu92Ile
ENST00000646654.1:c.418C>A	ENSP00000494526.1:p.Leu140Ile
ENST00000647169.1:c.418C>A	ENSP00000495619.1:p.Leu140Ile
ENST00000285398.6:c.418C>A	ENSP00000285398.2:p.Leu140Ile
ENST00000426778.5:c.*399C>A	ENSP00000415335.1:n.*399C>A
ENST00000445889.5:c.*461C>A	ENSP00000390888.1:n.*461C>A
ENST00000462306.5:n.332C>A
ENST00000490062.1:n.348C>A
ENST00000494464.5:n.302C>A
NM_000122.1:c.418C>A , LRG_462t1:c.418C>A	NP_000113.1:p.Leu140Ile
NM_001303416.1:c.226C>A	NP_001290345.1:p.Leu76Ile
NM_001303418.1:c.226C>A	NP_001290347.1:p.Leu76Ile
XM_011510794.1:c.418C>A	XP_011509096.1:p.Leu140Ile
XM_011510795.1:c.-39C>A	XP_011509097.1:n.-39C>A
XM_011510794.2:c.418C>A	XP_011509096.1:p.Leu140Ile
XM_017003583.1:c.-39C>A	XP_016859072.1:n.-39C>A
NM_000122.2:c.418C>A MANE Select	NP_000113.1:p.Leu140Ile
NM_001303416.2:c.226C>A	NP_001290345.1:p.Leu76Ile
NM_001303418.2:c.226C>A	NP_001290347.1:p.Leu76Ile