Canonical Allele Identifier: CA126690
Gene: ERCC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 16584
ClinVar RCV Id: RCV000018052
dbSNP Id: rs121913046
MyVariant Identifiers: chr2:g.128050302T>G (hg19) chr2:g.127292726T>G (hg38)
PubMed: PMID:9012405
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127292726T>G , CM000664.2:g.127292726T>G GRCh38
NC_000002.11:g.128050302T>G , CM000664.1:g.128050302T>G GRCh37
NC_000002.10:g.127766772T>G NCBI36
NG_007454.1:g.6451A>C , LRG_462:g.6451A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000285398.7:c.355A>C MANE Select ENSP00000285398.2:p.Thr119Pro
ENST00000642308.1:c.355A>C ENSP00000496684.1:p.Thr119Pro
ENST00000644317.1:c.235-22A>C ENSP00000494012.1:n.235-22A>C
ENST00000645233.1:c.355A>C ENSP00000494116.1:p.Thr119Pro
ENST00000645467.1:c.355A>C ENSP00000494889.1:p.Thr119Pro
ENST00000645736.1:c.211A>C ENSP00000494545.1:p.Thr71Pro
ENST00000646654.1:c.355A>C ENSP00000494526.1:p.Thr119Pro
ENST00000647169.1:c.355A>C ENSP00000495619.1:p.Thr119Pro
ENST00000285398.6:c.355A>C ENSP00000285398.2:p.Thr119Pro
ENST00000426778.5:c.*336A>C ENSP00000415335.1:n.*336A>C
ENST00000445889.5:c.*398A>C ENSP00000390888.1:n.*398A>C
ENST00000462306.5:n.291-22A>C
ENST00000490062.1:n.307-22A>C
ENST00000494464.5:n.261-22A>C
NM_000122.1:c.355A>C , LRG_462t1:c.355A>C NP_000113.1:p.Thr119Pro
NM_001303416.1:c.163A>C NP_001290345.1:p.Thr55Pro
NM_001303418.1:c.163A>C NP_001290347.1:p.Thr55Pro
XM_011510794.1:c.355A>C XP_011509096.1:p.Thr119Pro
XM_011510795.1:c.-80-22A>C XP_011509097.1:n.-80-22A>C
XM_011510794.2:c.355A>C XP_011509096.1:p.Thr119Pro
XM_017003583.1:c.-80-22A>C XP_016859072.1:n.-80-22A>C
NM_000122.2:c.355A>C MANE Select NP_000113.1:p.Thr119Pro
NM_001303416.2:c.163A>C NP_001290345.1:p.Thr55Pro
NM_001303418.2:c.163A>C NP_001290347.1:p.Thr55Pro
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