Canonical Allele Identifier: CA348391743

Gene: ERCC3

Linked Data

• MyVariant Identifiers: chr2:g.128050320C>G (hg19) ; chr2:g.127292744C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292744C>G , CM000664.2:g.127292744C>G	GRCh38
NC_000002.11:g.128050320C>G , CM000664.1:g.128050320C>G	GRCh37
NC_000002.10:g.127766790C>G	NCBI36
NG_007454.1:g.6433G>C , LRG_462:g.6433G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285398.7:c.337G>C MANE Select	ENSP00000285398.2:p.Val113Leu
ENST00000642308.1:c.337G>C	ENSP00000496684.1:p.Val113Leu
ENST00000644317.1:c.235-40G>C	ENSP00000494012.1:n.235-40G>C
ENST00000645233.1:c.337G>C	ENSP00000494116.1:p.Val113Leu
ENST00000645467.1:c.337G>C	ENSP00000494889.1:p.Val113Leu
ENST00000645736.1:c.193G>C	ENSP00000494545.1:p.Val65Leu
ENST00000646654.1:c.337G>C	ENSP00000494526.1:p.Val113Leu
ENST00000647169.1:c.337G>C	ENSP00000495619.1:p.Val113Leu
ENST00000285398.6:c.337G>C	ENSP00000285398.2:p.Val113Leu
ENST00000426778.5:c.*318G>C	ENSP00000415335.1:n.*318G>C
ENST00000445889.5:c.*380G>C	ENSP00000390888.1:n.*380G>C
ENST00000462306.5:n.291-40G>C
ENST00000490062.1:n.307-40G>C
ENST00000494464.5:n.261-40G>C
NM_000122.1:c.337G>C , LRG_462t1:c.337G>C	NP_000113.1:p.Val113Leu
NM_001303416.1:c.145G>C	NP_001290345.1:p.Val49Leu
NM_001303418.1:c.145G>C	NP_001290347.1:p.Val49Leu
XM_011510794.1:c.337G>C	XP_011509096.1:p.Val113Leu
XM_011510795.1:c.-80-40G>C	XP_011509097.1:n.-80-40G>C
XM_011510794.2:c.337G>C	XP_011509096.1:p.Val113Leu
XM_017003583.1:c.-80-40G>C	XP_016859072.1:n.-80-40G>C
NM_000122.2:c.337G>C MANE Select	NP_000113.1:p.Val113Leu
NM_001303416.2:c.145G>C	NP_001290345.1:p.Val49Leu
NM_001303418.2:c.145G>C	NP_001290347.1:p.Val49Leu