Canonical Allele Identifier: CA428609430

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127261306C>T , CM000664.2:g.127261306C>T	GRCh38
NC_000002.11:g.128018882C>T , CM000664.1:g.128018882C>T	GRCh37
NC_000002.10:g.127735352C>T	NCBI36
NG_007454.1:g.37871G>A , LRG_462:g.37871G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000122.2:c.1986G>A MANE Select	NP_000113.1:p.Leu662=
ENST00000285398.7:c.1986G>A MANE Select	ENSP00000285398.2:p.Leu662=
NM_000122.1:c.1986G>A , LRG_462t1:c.1986G>A	NP_000113.1:p.Leu662=
NM_001303416.1:c.1794G>A	NP_001290345.1:p.Leu598=
NM_001303416.2:c.1794G>A	NP_001290345.1:p.Leu598=
NM_001303418.1:c.1794G>A	NP_001290347.1:p.Leu598=
NM_001303418.2:c.1794G>A	NP_001290347.1:p.Leu598=
ENST00000285398.6:c.1986G>A	ENSP00000285398.2:p.Leu662=
ENST00000426778.5:c.*1967G>A	ENSP00000415335.1:n.*1967G>A
ENST00000445889.5:c.*2029G>A	ENSP00000390888.1:n.*2029G>A
ENST00000491292.5:n.1577G>A
ENST00000642972.1:n.345G>A
ENST00000644317.1:c.*1475G>A	ENSP00000494012.1:n.*1475G>A
ENST00000645233.1:c.*2198G>A	ENSP00000494116.1:n.*2198G>A
ENST00000645467.1:c.*758G>A	ENSP00000494889.1:n.*758G>A
ENST00000645504.1:c.642G>A
ENST00000645736.1:c.1657G>A	ENSP00000494545.1:n.1657G>A
ENST00000646042.1:n.2721G>A
ENST00000646654.1:c.*1453G>A	ENSP00000494526.1:n.*1453G>A
ENST00000647169.1:c.2061G>A	ENSP00000495619.1:p.Leu687=
ENST00000647496.1:c.396-3704G>A
XM_011510794.1:c.2004G>A	XP_011509096.1:p.Leu668=
XM_011510794.2:c.2004G>A	XP_011509096.1:p.Leu668=
XM_011510795.1:c.1548G>A	XP_011509097.1:p.Leu516=
XM_017003583.1:c.1530G>A	XP_016859072.1:p.Leu510=