Canonical Allele Identifier: CA10610734

Gene: ERCC3

Linked Data

• ClinVar Variation Id: 331096
• ClinVar RCV Id: RCV000405663 ; RCV002521285
• dbSNP Id: rs886054844
• gnomAD v2: 2-128051622-C-T
• gnomAD v3: 2-127294046-C-T
• gnomAD v4: 2-127294046-C-T
• MyVariant Identifiers: chr2:g.128051622C>T (hg19) ; chr2:g.127294046C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127294046C>T , CM000664.2:g.127294046C>T	GRCh38
NC_000002.11:g.128051622C>T , CM000664.1:g.128051622C>T	GRCh37
NC_000002.10:g.127768092C>T	NCBI36
NG_007454.1:g.5131G>A , LRG_462:g.5131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285398.7:c.28+8G>A MANE Select	ENSP00000285398.2:n.28+8G>A
ENST00000642308.1:c.28+8G>A	ENSP00000496684.1:n.28+8G>A
ENST00000644317.1:c.28+8G>A	ENSP00000494012.1:n.28+8G>A
ENST00000645233.1:c.28+8G>A	ENSP00000494116.1:n.28+8G>A
ENST00000645467.1:c.28+8G>A	ENSP00000494889.1:n.28+8G>A
ENST00000646654.1:c.28+8G>A	ENSP00000494526.1:n.28+8G>A
ENST00000647169.1:c.28+8G>A	ENSP00000495619.1:n.28+8G>A
ENST00000285398.6:c.28+8G>A	ENSP00000285398.2:n.28+8G>A
ENST00000426778.5:c.36G>A	ENSP00000415335.1:p.Thr12=
ENST00000445889.5:c.36G>A	ENSP00000390888.1:p.Thr12=
ENST00000462306.5:n.84+8G>A
ENST00000490062.1:n.100+8G>A
ENST00000494464.5:n.54+8G>A
NM_000122.1:c.28+8G>A , LRG_462t1:c.28+8G>A	NP_000113.1:n.28+8G>A
NM_001303416.1:c.-354G>A	NP_001290345.1:n.-354G>A
NM_001303418.1:c.-416G>A	NP_001290347.1:n.-416G>A
XM_011510794.1:c.28+8G>A	XP_011509096.1:n.28+8G>A
XM_011510795.1:c.-287+8G>A	XP_011509097.1:n.-287+8G>A
XM_011510794.2:c.28+8G>A	XP_011509096.1:n.28+8G>A
XM_017003583.1:c.-287+8G>A	XP_016859072.1:n.-287+8G>A
NM_000122.2:c.28+8G>A MANE Select	NP_000113.1:n.28+8G>A
NM_001303416.2:c.-354G>A	NP_001290345.1:n.-354G>A
NM_001303418.2:c.-416G>A	NP_001290347.1:n.-416G>A