Canonical Allele Identifier: CA348391719

Gene: ERCC3

Linked Data

• MyVariant Identifiers: chr2:g.128050310T>A (hg19) ; chr2:g.127292734T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292734T>A , CM000664.2:g.127292734T>A	GRCh38
NC_000002.11:g.128050310T>A , CM000664.1:g.128050310T>A	GRCh37
NC_000002.10:g.127766780T>A	NCBI36
NG_007454.1:g.6443A>T , LRG_462:g.6443A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000285398.7:c.347A>T MANE Select	ENSP00000285398.2:p.Tyr116Phe
ENST00000642308.1:c.347A>T	ENSP00000496684.1:p.Tyr116Phe
ENST00000644317.1:c.235-30A>T	ENSP00000494012.1:n.235-30A>T
ENST00000645233.1:c.347A>T	ENSP00000494116.1:p.Tyr116Phe
ENST00000645467.1:c.347A>T	ENSP00000494889.1:p.Tyr116Phe
ENST00000645736.1:c.203A>T	ENSP00000494545.1:p.Tyr68Phe
ENST00000646654.1:c.347A>T	ENSP00000494526.1:p.Tyr116Phe
ENST00000647169.1:c.347A>T	ENSP00000495619.1:p.Tyr116Phe
ENST00000285398.6:c.347A>T	ENSP00000285398.2:p.Tyr116Phe
ENST00000426778.5:c.*328A>T	ENSP00000415335.1:n.*328A>T
ENST00000445889.5:c.*390A>T	ENSP00000390888.1:n.*390A>T
ENST00000462306.5:n.291-30A>T
ENST00000490062.1:n.307-30A>T
ENST00000494464.5:n.261-30A>T
NM_000122.1:c.347A>T , LRG_462t1:c.347A>T	NP_000113.1:p.Tyr116Phe
NM_001303416.1:c.155A>T	NP_001290345.1:p.Tyr52Phe
NM_001303418.1:c.155A>T	NP_001290347.1:p.Tyr52Phe
XM_011510794.1:c.347A>T	XP_011509096.1:p.Tyr116Phe
XM_011510795.1:c.-80-30A>T	XP_011509097.1:n.-80-30A>T
XM_011510794.2:c.347A>T	XP_011509096.1:p.Tyr116Phe
XM_017003583.1:c.-80-30A>T	XP_016859072.1:n.-80-30A>T
NM_000122.2:c.347A>T MANE Select	NP_000113.1:p.Tyr116Phe
NM_001303416.2:c.155A>T	NP_001290345.1:p.Tyr52Phe
NM_001303418.2:c.155A>T	NP_001290347.1:p.Tyr52Phe