Canonical Allele Identifier: CA348391447

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292609C>T , CM000664.2:g.127292609C>T	GRCh38
NC_000002.11:g.128050185C>T , CM000664.1:g.128050185C>T	GRCh37
NC_000002.10:g.127766655C>T	NCBI36
NG_007454.1:g.6568G>A , LRG_462:g.6568G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000122.2:c.471+1G>A MANE Select	NP_000113.1:n.471+1G>A
ENST00000285398.7:c.471+1G>A MANE Select	ENSP00000285398.2:n.471+1G>A
NM_000122.1:c.471+1G>A , LRG_462t1:c.471+1G>A	NP_000113.1:n.471+1G>A
NM_001303416.1:c.279+1G>A	NP_001290345.1:n.279+1G>A
NM_001303416.2:c.279+1G>A	NP_001290345.1:n.279+1G>A
NM_001303418.1:c.279+1G>A	NP_001290347.1:n.279+1G>A
NM_001303418.2:c.279+1G>A	NP_001290347.1:n.279+1G>A
ENST00000285398.6:c.471+1G>A	ENSP00000285398.2:n.471+1G>A
ENST00000426778.5:c.*452+1G>A	ENSP00000415335.1:n.*452+1G>A
ENST00000445889.5:c.*514+1G>A	ENSP00000390888.1:n.*514+1G>A
ENST00000462306.5:n.385+1G>A
ENST00000490062.1:n.402G>A
ENST00000494464.5:n.355+1G>A
ENST00000642308.1:c.472G>A	ENSP00000496684.1:p.Ala158Thr
ENST00000644317.1:c.329+1G>A	ENSP00000494012.1:n.329+1G>A
ENST00000645233.1:c.472G>A	ENSP00000494116.1:p.Ala158Thr
ENST00000645467.1:c.471+1G>A	ENSP00000494889.1:n.471+1G>A
ENST00000645736.1:c.327+1G>A	ENSP00000494545.1:n.327+1G>A
ENST00000646654.1:c.471+1G>A	ENSP00000494526.1:n.471+1G>A
ENST00000647169.1:c.471+1G>A	ENSP00000495619.1:n.471+1G>A
ENST00000647496.1:c.44+1G>A
XM_011510794.1:c.471+1G>A	XP_011509096.1:n.471+1G>A
XM_011510794.2:c.471+1G>A	XP_011509096.1:n.471+1G>A
XM_011510795.1:c.15+1G>A	XP_011509097.1:n.15+1G>A
XM_017003583.1:c.15+1G>A	XP_016859072.1:n.15+1G>A