Canonical Allele Identifier: CA348391514

Gene: ERCC3

Linked Data

• MyVariant Identifiers: chr2:g.128050214A>G (hg19) ; chr2:g.127292638A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292638A>G , CM000664.2:g.127292638A>G	GRCh38
NC_000002.11:g.128050214A>G , CM000664.1:g.128050214A>G	GRCh37
NC_000002.10:g.127766684A>G	NCBI36
NG_007454.1:g.6539T>C , LRG_462:g.6539T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000285398.7:c.443T>C MANE Select	ENSP00000285398.2:p.Val148Ala
ENST00000642308.1:c.443T>C	ENSP00000496684.1:p.Val148Ala
ENST00000644317.1:c.301T>C	ENSP00000494012.1:p.Ser101Pro
ENST00000645233.1:c.443T>C	ENSP00000494116.1:p.Val148Ala
ENST00000645467.1:c.443T>C	ENSP00000494889.1:p.Val148Ala
ENST00000645736.1:c.299T>C	ENSP00000494545.1:p.Val100Ala
ENST00000646654.1:c.443T>C	ENSP00000494526.1:p.Val148Ala
ENST00000647169.1:c.443T>C	ENSP00000495619.1:p.Val148Ala
ENST00000647496.1:c.16T>C
ENST00000285398.6:c.443T>C	ENSP00000285398.2:p.Val148Ala
ENST00000426778.5:c.*424T>C	ENSP00000415335.1:n.*424T>C
ENST00000445889.5:c.*486T>C	ENSP00000390888.1:n.*486T>C
ENST00000462306.5:n.357T>C
ENST00000490062.1:n.373T>C
ENST00000494464.5:n.327T>C
NM_000122.1:c.443T>C , LRG_462t1:c.443T>C	NP_000113.1:p.Val148Ala
NM_001303416.1:c.251T>C	NP_001290345.1:p.Val84Ala
NM_001303418.1:c.251T>C	NP_001290347.1:p.Val84Ala
XM_011510794.1:c.443T>C	XP_011509096.1:p.Val148Ala
XM_011510795.1:c.-14T>C	XP_011509097.1:n.-14T>C
XM_011510794.2:c.443T>C	XP_011509096.1:p.Val148Ala
XM_017003583.1:c.-14T>C	XP_016859072.1:n.-14T>C
NM_000122.2:c.443T>C MANE Select	NP_000113.1:p.Val148Ala
NM_001303416.2:c.251T>C	NP_001290345.1:p.Val84Ala
NM_001303418.2:c.251T>C	NP_001290347.1:p.Val84Ala