Canonical Allele Identifier: CA428615657

Gene: ERCC3

Linked Data

• MyVariant Identifiers: chr2:g.128050210A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292634A>C , CM000664.2:g.127292634A>C	GRCh38
NC_000002.11:g.128050210A>C , CM000664.1:g.128050210A>C	GRCh37
NC_000002.10:g.127766680A>C	NCBI36
NG_007454.1:g.6543T>G , LRG_462:g.6543T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000285398.7:c.447T>G MANE Select	ENSP00000285398.2:p.Pro149=
ENST00000642308.1:c.447T>G	ENSP00000496684.1:p.Pro149=
ENST00000644317.1:c.305T>G	ENSP00000494012.1:p.Leu102Arg
ENST00000645233.1:c.447T>G	ENSP00000494116.1:p.Pro149=
ENST00000645467.1:c.447T>G	ENSP00000494889.1:p.Pro149=
ENST00000645736.1:c.303T>G	ENSP00000494545.1:p.Pro101=
ENST00000646654.1:c.447T>G	ENSP00000494526.1:p.Pro149=
ENST00000647169.1:c.447T>G	ENSP00000495619.1:p.Pro149=
ENST00000647496.1:c.20T>G
ENST00000285398.6:c.447T>G	ENSP00000285398.2:p.Pro149=
ENST00000426778.5:c.*428T>G	ENSP00000415335.1:n.*428T>G
ENST00000445889.5:c.*490T>G	ENSP00000390888.1:n.*490T>G
ENST00000462306.5:n.361T>G
ENST00000490062.1:n.377T>G
ENST00000494464.5:n.331T>G
NM_000122.1:c.447T>G , LRG_462t1:c.447T>G	NP_000113.1:p.Pro149=
NM_001303416.1:c.255T>G	NP_001290345.1:p.Pro85=
NM_001303418.1:c.255T>G	NP_001290347.1:p.Pro85=
XM_011510794.1:c.447T>G	XP_011509096.1:p.Pro149=
XM_011510795.1:c.-10T>G	XP_011509097.1:n.-10T>G
XM_011510794.2:c.447T>G	XP_011509096.1:p.Pro149=
XM_017003583.1:c.-10T>G	XP_016859072.1:n.-10T>G
NM_000122.2:c.447T>G MANE Select	NP_000113.1:p.Pro149=
NM_001303416.2:c.255T>G	NP_001290345.1:p.Pro85=
NM_001303418.2:c.255T>G	NP_001290347.1:p.Pro85=