Canonical Allele Identifier: CA348391634

Gene: ERCC3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000285398.7:c.389G>C MANE Select	ENSP00000285398.2:p.Gly130Ala
ENST00000642308.1:c.389G>C	ENSP00000496684.1:p.Gly130Ala
ENST00000644317.1:c.247G>C	ENSP00000494012.1:p.Gly83Arg
ENST00000645233.1:c.389G>C	ENSP00000494116.1:p.Gly130Ala
ENST00000645467.1:c.389G>C	ENSP00000494889.1:p.Gly130Ala
ENST00000645736.1:c.245G>C	ENSP00000494545.1:p.Gly82Ala
ENST00000646654.1:c.389G>C	ENSP00000494526.1:p.Gly130Ala
ENST00000647169.1:c.389G>C	ENSP00000495619.1:p.Gly130Ala
ENST00000285398.6:c.389G>C	ENSP00000285398.2:p.Gly130Ala
ENST00000426778.5:c.*370G>C	ENSP00000415335.1:n.*370G>C
ENST00000445889.5:c.*432G>C	ENSP00000390888.1:n.*432G>C
ENST00000462306.5:n.303G>C
ENST00000490062.1:n.319G>C
ENST00000494464.5:n.273G>C
NM_000122.1:c.389G>C , LRG_462t1:c.389G>C	NP_000113.1:p.Gly130Ala
NM_001303416.1:c.197G>C	NP_001290345.1:p.Gly66Ala
NM_001303418.1:c.197G>C	NP_001290347.1:p.Gly66Ala
XM_011510794.1:c.389G>C	XP_011509096.1:p.Gly130Ala
XM_011510795.1:c.-68G>C	XP_011509097.1:n.-68G>C
XM_011510794.2:c.389G>C	XP_011509096.1:p.Gly130Ala
XM_017003583.1:c.-68G>C	XP_016859072.1:n.-68G>C
NM_000122.2:c.389G>C MANE Select	NP_000113.1:p.Gly130Ala
NM_001303416.2:c.197G>C	NP_001290345.1:p.Gly66Ala
NM_001303418.2:c.197G>C	NP_001290347.1:p.Gly66Ala