Canonical Allele Identifier: CA1858035
Community Standard Title: NM_000122.2(ERCC3):c.2218-5G>A
Gene: ERCC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127257732C>T , CM000664.2:g.127257732C>T GRCh38
NC_000002.11:g.128015308C>T , CM000664.1:g.128015308C>T GRCh37
NC_000002.10:g.127731778C>T NCBI36
NG_007454.1:g.41445G>A , LRG_462:g.41445G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000122.2:c.2218-5G>A MANE Select NP_000113.1:n.2218-5G>A
ENST00000285398.7:c.2218-5G>A MANE Select ENSP00000285398.2:n.2218-5G>A
NM_000122.1:c.2218-5G>A , LRG_462t1:c.2218-5G>A NP_000113.1:n.2218-5G>A
NM_001303416.1:c.2026-5G>A NP_001290345.1:n.2026-5G>A
NM_001303416.2:c.2026-5G>A NP_001290345.1:n.2026-5G>A
NM_001303418.1:c.2026-5G>A NP_001290347.1:n.2026-5G>A
NM_001303418.2:c.2026-5G>A NP_001290347.1:n.2026-5G>A
ENST00000285398.6:c.2218-5G>A ENSP00000285398.2:n.2218-5G>A
ENST00000426778.5:c.*2199-5G>A ENSP00000415335.1:n.*2199-5G>A
ENST00000445889.5:c.*2261-5G>A ENSP00000390888.1:n.*2261-5G>A
ENST00000491292.5:n.3588-5G>A
ENST00000644317.1:c.*1707-5G>A ENSP00000494012.1:n.*1707-5G>A
ENST00000645233.1:c.*2430-5G>A ENSP00000494116.1:n.*2430-5G>A
ENST00000645467.1:c.*990-5G>A ENSP00000494889.1:n.*990-5G>A
ENST00000645736.1:c.1889-5G>A ENSP00000494545.1:n.1889-5G>A
ENST00000646042.1:n.2953-5G>A
ENST00000646654.1:c.*1685-5G>A ENSP00000494526.1:n.*1685-5G>A
ENST00000647169.1:c.2293-5G>A ENSP00000495619.1:n.2293-5G>A
ENST00000647496.1:c.396-130G>A
XM_011510794.1:c.2236-5G>A XP_011509096.1:n.2236-5G>A
XM_011510794.2:c.2236-5G>A XP_011509096.1:n.2236-5G>A
XM_011510795.1:c.1780-5G>A XP_011509097.1:n.1780-5G>A
XM_017003583.1:c.1762-5G>A XP_016859072.1:n.1762-5G>A