Canonical Allele Identifier: CA348391633

Gene: ERCC3

Linked Data

• dbSNP Id: rs1211945316
• gnomAD v2: 2-128050268-C-A
• gnomAD v4: 2-127292692-C-A
• MyVariant Identifiers: chr2:g.128050268C>A (hg19) ; chr2:g.127292692C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292692C>A , CM000664.2:g.127292692C>A	GRCh38
NC_000002.11:g.128050268C>A , CM000664.1:g.128050268C>A	GRCh37
NC_000002.10:g.127766738C>A	NCBI36
NG_007454.1:g.6485G>T , LRG_462:g.6485G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000285398.7:c.389G>T MANE Select	ENSP00000285398.2:p.Gly130Val
ENST00000642308.1:c.389G>T	ENSP00000496684.1:p.Gly130Val
ENST00000644317.1:c.247G>T	ENSP00000494012.1:p.Gly83Cys
ENST00000645233.1:c.389G>T	ENSP00000494116.1:p.Gly130Val
ENST00000645467.1:c.389G>T	ENSP00000494889.1:p.Gly130Val
ENST00000645736.1:c.245G>T	ENSP00000494545.1:p.Gly82Val
ENST00000646654.1:c.389G>T	ENSP00000494526.1:p.Gly130Val
ENST00000647169.1:c.389G>T	ENSP00000495619.1:p.Gly130Val
ENST00000285398.6:c.389G>T	ENSP00000285398.2:p.Gly130Val
ENST00000426778.5:c.*370G>T	ENSP00000415335.1:n.*370G>T
ENST00000445889.5:c.*432G>T	ENSP00000390888.1:n.*432G>T
ENST00000462306.5:n.303G>T
ENST00000490062.1:n.319G>T
ENST00000494464.5:n.273G>T
NM_000122.1:c.389G>T , LRG_462t1:c.389G>T	NP_000113.1:p.Gly130Val
NM_001303416.1:c.197G>T	NP_001290345.1:p.Gly66Val
NM_001303418.1:c.197G>T	NP_001290347.1:p.Gly66Val
XM_011510794.1:c.389G>T	XP_011509096.1:p.Gly130Val
XM_011510795.1:c.-68G>T	XP_011509097.1:n.-68G>T
XM_011510794.2:c.389G>T	XP_011509096.1:p.Gly130Val
XM_017003583.1:c.-68G>T	XP_016859072.1:n.-68G>T
NM_000122.2:c.389G>T MANE Select	NP_000113.1:p.Gly130Val
NM_001303416.2:c.197G>T	NP_001290345.1:p.Gly66Val
NM_001303418.2:c.197G>T	NP_001290347.1:p.Gly66Val