Canonical Allele Identifier: CA1858507

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127289763G>A , CM000664.2:g.127289763G>A	GRCh38
NC_000002.11:g.128047339G>A , CM000664.1:g.128047339G>A	GRCh37
NC_000002.10:g.127763809G>A	NCBI36
NG_007454.1:g.9414C>T , LRG_462:g.9414C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000122.2:c.583C>T MANE Select	NP_000113.1:p.Arg195Ter
ENST00000285398.7:c.583C>T MANE Select	ENSP00000285398.2:p.Arg195Ter
NM_000122.1:c.583C>T , LRG_462t1:c.583C>T	NP_000113.1:p.Arg195Ter
NM_001303416.1:c.391C>T	NP_001290345.1:p.Arg131Ter
NM_001303416.2:c.391C>T	NP_001290345.1:p.Arg131Ter
NM_001303418.1:c.391C>T	NP_001290347.1:p.Arg131Ter
NM_001303418.2:c.391C>T	NP_001290347.1:p.Arg131Ter
ENST00000285398.6:c.583C>T	ENSP00000285398.2:p.Arg195Ter
ENST00000426778.5:c.*564C>T	ENSP00000415335.1:n.*564C>T
ENST00000445889.5:c.*626C>T	ENSP00000390888.1:n.*626C>T
ENST00000456257.1:c.114C>T
ENST00000460485.1:n.428C>T
ENST00000462306.5:n.896C>T
ENST00000494464.5:n.467C>T
ENST00000642308.1:c.*623C>T	ENSP00000496684.1:n.*623C>T
ENST00000643982.1:n.180C>T
ENST00000644317.1:c.*72C>T	ENSP00000494012.1:n.*72C>T
ENST00000645233.1:c.*795C>T	ENSP00000494116.1:n.*795C>T
ENST00000645467.1:c.583C>T	ENSP00000494889.1:p.Arg195Ter
ENST00000645736.1:c.439C>T	ENSP00000494545.1:p.Arg147Ter
ENST00000646042.1:n.1131C>T
ENST00000646654.1:c.*50C>T	ENSP00000494526.1:n.*50C>T
ENST00000647169.1:c.583C>T	ENSP00000495619.1:p.Arg195Ter
ENST00000647496.1:c.156C>T
XM_011510794.1:c.583C>T	XP_011509096.1:p.Arg195Ter
XM_011510794.2:c.583C>T	XP_011509096.1:p.Arg195Ter
XM_011510795.1:c.127C>T	XP_011509097.1:p.Arg43Ter
XM_017003583.1:c.127C>T	XP_016859072.1:p.Arg43Ter