Canonical Allele Identifier: CA428604605

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127271370G>C , CM000664.2:g.127271370G>C	GRCh38
NC_000002.11:g.128028946G>C , CM000664.1:g.128028946G>C	GRCh37
NC_000002.10:g.127745416G>C	NCBI36
NG_007454.1:g.27807C>G , LRG_462:g.27807C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000122.2:c.1911C>G MANE Select	NP_000113.1:p.Ala637=
ENST00000285398.7:c.1911C>G MANE Select	ENSP00000285398.2:p.Ala637=
NM_000122.1:c.1911C>G , LRG_462t1:c.1911C>G	NP_000113.1:p.Ala637=
NM_001303416.1:c.1719C>G	NP_001290345.1:p.Ala573=
NM_001303416.2:c.1719C>G	NP_001290345.1:p.Ala573=
NM_001303418.1:c.1719C>G	NP_001290347.1:p.Ala573=
NM_001303418.2:c.1719C>G	NP_001290347.1:p.Ala573=
ENST00000285398.6:c.1911C>G	ENSP00000285398.2:p.Ala637=
ENST00000426778.5:c.*1892C>G	ENSP00000415335.1:n.*1892C>G
ENST00000445889.5:c.*1954C>G	ENSP00000390888.1:n.*1954C>G
ENST00000642972.1:n.270C>G
ENST00000644317.1:c.*1400C>G	ENSP00000494012.1:n.*1400C>G
ENST00000645233.1:c.*2123C>G	ENSP00000494116.1:n.*2123C>G
ENST00000645467.1:c.*683C>G	ENSP00000494889.1:n.*683C>G
ENST00000645504.1:c.567C>G
ENST00000645736.1:c.1582C>G	ENSP00000494545.1:n.1582C>G
ENST00000646042.1:n.2646C>G
ENST00000646654.1:c.*1378C>G	ENSP00000494526.1:n.*1378C>G
ENST00000647169.1:c.1986C>G	ENSP00000495619.1:p.Ala662=
ENST00000647496.1:c.396-13768C>G
XM_011510794.1:c.1929C>G	XP_011509096.1:p.Ala643=
XM_011510794.2:c.1929C>G	XP_011509096.1:p.Ala643=
XM_011510795.1:c.1473C>G	XP_011509097.1:p.Ala491=
XM_017003583.1:c.1455C>G	XP_016859072.1:p.Ala485=