Canonical Allele Identifier: CA1858160

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127271454C>G , CM000664.2:g.127271454C>G	GRCh38
NC_000002.11:g.128029030C>G , CM000664.1:g.128029030C>G	GRCh37
NC_000002.10:g.127745500C>G	NCBI36
NG_007454.1:g.27723G>C , LRG_462:g.27723G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000122.2:c.1828-1G>C MANE Select	NP_000113.1:n.1828-1G>C
ENST00000285398.7:c.1828-1G>C MANE Select	ENSP00000285398.2:n.1828-1G>C
NM_000122.1:c.1828-1G>C , LRG_462t1:c.1828-1G>C	NP_000113.1:n.1828-1G>C
NM_001303416.1:c.1636-1G>C	NP_001290345.1:n.1636-1G>C
NM_001303416.2:c.1636-1G>C	NP_001290345.1:n.1636-1G>C
NM_001303418.1:c.1636-1G>C	NP_001290347.1:n.1636-1G>C
NM_001303418.2:c.1636-1G>C	NP_001290347.1:n.1636-1G>C
ENST00000285398.6:c.1828-1G>C	ENSP00000285398.2:n.1828-1G>C
ENST00000426778.5:c.*1809-1G>C	ENSP00000415335.1:n.*1809-1G>C
ENST00000445889.5:c.*1871-1G>C	ENSP00000390888.1:n.*1871-1G>C
ENST00000642972.1:n.187-1G>C
ENST00000644317.1:c.*1317-1G>C	ENSP00000494012.1:n.*1317-1G>C
ENST00000645233.1:c.*2040-1G>C	ENSP00000494116.1:n.*2040-1G>C
ENST00000645467.1:c.*600-1G>C	ENSP00000494889.1:n.*600-1G>C
ENST00000645504.1:c.484-1G>C
ENST00000645736.1:c.1499-1G>C	ENSP00000494545.1:n.1499-1G>C
ENST00000646042.1:n.2563-1G>C
ENST00000646654.1:c.*1295-1G>C	ENSP00000494526.1:n.*1295-1G>C
ENST00000647169.1:c.1903-1G>C	ENSP00000495619.1:n.1903-1G>C
ENST00000647496.1:c.396-13852G>C
XM_011510794.1:c.1846-1G>C	XP_011509096.1:n.1846-1G>C
XM_011510794.2:c.1846-1G>C	XP_011509096.1:n.1846-1G>C
XM_011510795.1:c.1390-1G>C	XP_011509097.1:n.1390-1G>C
XM_017003583.1:c.1372-1G>C	XP_016859072.1:n.1372-1G>C