Canonical Allele Identifier: CA428845420

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127286893A>G , CM000664.2:g.127286893A>G	GRCh38
NC_000002.11:g.128044469A>G , CM000664.1:g.128044469A>G	GRCh37
NC_000002.10:g.127760939A>G	NCBI36
NG_007454.1:g.12284T>C , LRG_462:g.12284T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000122.2:c.1152T>C MANE Select	NP_000113.1:p.Ile384=
ENST00000285398.7:c.1152T>C MANE Select	ENSP00000285398.2:p.Ile384=
NM_000122.1:c.1152T>C , LRG_462t1:c.1152T>C	NP_000113.1:p.Ile384=
NM_001303416.1:c.960T>C	NP_001290345.1:p.Ile320=
NM_001303416.2:c.960T>C	NP_001290345.1:p.Ile320=
NM_001303418.1:c.960T>C	NP_001290347.1:p.Ile320=
NM_001303418.2:c.960T>C	NP_001290347.1:p.Ile320=
ENST00000285398.6:c.1152T>C	ENSP00000285398.2:p.Ile384=
ENST00000426778.5:c.*1133T>C	ENSP00000415335.1:n.*1133T>C
ENST00000445889.5:c.*1195T>C	ENSP00000390888.1:n.*1195T>C
ENST00000494464.5:n.1223T>C
ENST00000644317.1:c.*641T>C	ENSP00000494012.1:n.*641T>C
ENST00000645233.1:c.*1364T>C	ENSP00000494116.1:n.*1364T>C
ENST00000645467.1:c.1152T>C	ENSP00000494889.1:p.Ile384=
ENST00000645736.1:c.1008T>C	ENSP00000494545.1:p.Ile336=
ENST00000646042.1:n.1887T>C
ENST00000646654.1:c.*619T>C	ENSP00000494526.1:n.*619T>C
ENST00000647169.1:c.1152T>C	ENSP00000495619.1:p.Ile384=
ENST00000647496.1:c.395+2444T>C
XM_011510794.1:c.1170T>C	XP_011509096.1:p.Ile390=
XM_011510794.2:c.1170T>C	XP_011509096.1:p.Ile390=
XM_011510795.1:c.714T>C	XP_011509097.1:p.Ile238=
XM_017003583.1:c.696T>C	XP_016859072.1:p.Ile232=