Canonical Allele Identifier: CA348391507

Gene: ERCC3

Linked Data

• gnomAD v4: 2-127292635-G-A
• COSMIC: COSM1129588
• MyVariant Identifiers: chr2:g.128050211G>A (hg19) ; chr2:g.127292635G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127292635G>A , CM000664.2:g.127292635G>A	GRCh38
NC_000002.11:g.128050211G>A , CM000664.1:g.128050211G>A	GRCh37
NC_000002.10:g.127766681G>A	NCBI36
NG_007454.1:g.6542C>T , LRG_462:g.6542C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000285398.7:c.446C>T MANE Select	ENSP00000285398.2:p.Pro149Leu
ENST00000642308.1:c.446C>T	ENSP00000496684.1:p.Pro149Leu
ENST00000644317.1:c.304C>T	ENSP00000494012.1:p.Leu102=
ENST00000645233.1:c.446C>T	ENSP00000494116.1:p.Pro149Leu
ENST00000645467.1:c.446C>T	ENSP00000494889.1:p.Pro149Leu
ENST00000645736.1:c.302C>T	ENSP00000494545.1:p.Pro101Leu
ENST00000646654.1:c.446C>T	ENSP00000494526.1:p.Pro149Leu
ENST00000647169.1:c.446C>T	ENSP00000495619.1:p.Pro149Leu
ENST00000647496.1:c.19C>T
ENST00000285398.6:c.446C>T	ENSP00000285398.2:p.Pro149Leu
ENST00000426778.5:c.*427C>T	ENSP00000415335.1:n.*427C>T
ENST00000445889.5:c.*489C>T	ENSP00000390888.1:n.*489C>T
ENST00000462306.5:n.360C>T
ENST00000490062.1:n.376C>T
ENST00000494464.5:n.330C>T
NM_000122.1:c.446C>T , LRG_462t1:c.446C>T	NP_000113.1:p.Pro149Leu
NM_001303416.1:c.254C>T	NP_001290345.1:p.Pro85Leu
NM_001303418.1:c.254C>T	NP_001290347.1:p.Pro85Leu
XM_011510794.1:c.446C>T	XP_011509096.1:p.Pro149Leu
XM_011510795.1:c.-11C>T	XP_011509097.1:n.-11C>T
XM_011510794.2:c.446C>T	XP_011509096.1:p.Pro149Leu
XM_017003583.1:c.-11C>T	XP_016859072.1:n.-11C>T
NM_000122.2:c.446C>T MANE Select	NP_000113.1:p.Pro149Leu
NM_001303416.2:c.254C>T	NP_001290345.1:p.Pro85Leu
NM_001303418.2:c.254C>T	NP_001290347.1:p.Pro85Leu