Canonical Allele Identifier: CA1858534
Community Standard Title: NM_000122.2(ERCC3):c.472-10G>A
Gene: ERCC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127290283C>T , CM000664.2:g.127290283C>T GRCh38
NC_000002.11:g.128047859C>T , CM000664.1:g.128047859C>T GRCh37
NC_000002.10:g.127764329C>T NCBI36
NG_007454.1:g.8894G>A , LRG_462:g.8894G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000122.2:c.472-10G>A MANE Select NP_000113.1:n.472-10G>A
ENST00000285398.7:c.472-10G>A MANE Select ENSP00000285398.2:n.472-10G>A
NM_000122.1:c.472-10G>A , LRG_462t1:c.472-10G>A NP_000113.1:n.472-10G>A
NM_001303416.1:c.280-10G>A NP_001290345.1:n.280-10G>A
NM_001303416.2:c.280-10G>A NP_001290345.1:n.280-10G>A
NM_001303418.1:c.280-10G>A NP_001290347.1:n.280-10G>A
NM_001303418.2:c.280-10G>A NP_001290347.1:n.280-10G>A
ENST00000285398.6:c.472-10G>A ENSP00000285398.2:n.472-10G>A
ENST00000426778.5:c.*453-10G>A ENSP00000415335.1:n.*453-10G>A
ENST00000445889.5:c.*515-10G>A ENSP00000390888.1:n.*515-10G>A
ENST00000460485.1:n.307G>A
ENST00000462306.5:n.386-10G>A
ENST00000494464.5:n.356-10G>A
ENST00000642308.1:c.*512-10G>A ENSP00000496684.1:n.*512-10G>A
ENST00000644317.1:c.330-10G>A ENSP00000494012.1:n.330-10G>A
ENST00000645233.1:c.*684-10G>A ENSP00000494116.1:n.*684-10G>A
ENST00000645467.1:c.472-10G>A ENSP00000494889.1:n.472-10G>A
ENST00000645736.1:c.328-10G>A ENSP00000494545.1:n.328-10G>A
ENST00000646042.1:n.611G>A
ENST00000646654.1:c.472-459G>A ENSP00000494526.1:n.472-459G>A
ENST00000647169.1:c.472-10G>A ENSP00000495619.1:n.472-10G>A
ENST00000647496.1:c.45-10G>A
XM_011510794.1:c.472-10G>A XP_011509096.1:n.472-10G>A
XM_011510794.2:c.472-10G>A XP_011509096.1:n.472-10G>A
XM_011510795.1:c.16-10G>A XP_011509097.1:n.16-10G>A
XM_017003583.1:c.16-10G>A XP_016859072.1:n.16-10G>A