Canonical Allele Identifier: CA5495319

Gene: ERCC6

Linked Data

• dbSNP Id: rs757369362
• ExAC: 10:50678416 T / C
• gnomAD v2: 10-50678416-T-C
• gnomAD v3: 10-49470370-T-C
• gnomAD v4: 10-49470370-T-C
• MyVariant Identifiers: chr10:g.50678416T>C (hg19) ; chr10:g.49470370T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470370T>C , CM000672.2:g.49470370T>C	GRCh38
NC_000010.10:g.50678416T>C , CM000672.1:g.50678416T>C	GRCh37
NC_000010.9:g.50348422T>C	NCBI36
NG_009442.1:g.73732A>G , LRG_465:g.73732A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3590A>G MANE Select	ENSP00000348089.5:p.Glu1197Gly
ENST00000679552.1:n.661A>G
ENST00000679871.1:n.736A>G
ENST00000679974.1:n.639A>G
ENST00000681632.1:n.4993A>G
ENST00000681659.1:c.3431A>G	ENSP00000505631.1:p.Glu1144Gly
ENST00000355832.9:c.3590A>G	ENSP00000348089.5:p.Glu1197Gly
ENST00000623073.3:c.*1886A>G	ENSP00000485650.1:n.*1886A>G
ENST00000623115.3:c.1700A>G	ENSP00000485321.1:p.Glu567Gly
ENST00000624341.3:c.1422A>G
NM_000124.3:c.3590A>G	NP_000115.1:p.Glu1197Gly
XR_945953.1:n.243-1195T>C
NM_001346440.1:c.3590A>G	NP_001333369.1:p.Glu1197Gly
NM_000124.4:c.3590A>G MANE Select	NP_000115.1:p.Glu1197Gly
NM_001346440.2:c.3590A>G	NP_001333369.1:p.Glu1197Gly