Canonical Allele Identifier: CA5495580

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 300060
• ClinVar RCV Id: RCV000303153 ; RCV000358062 ; RCV000394139 ; RCV000930085
• dbSNP Id: rs761802751
• ExAC: 10:50681535 C / T
• gnomAD v2: 10-50681535-C-T
• gnomAD v3: 10-49473489-C-T
• gnomAD v4: 10-49473489-C-T
• MyVariant Identifiers: chr10:g.50681535C>T (hg19) ; chr10:g.49473489C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49473489C>T , CM000672.2:g.49473489C>T	GRCh38
NC_000010.10:g.50681535C>T , CM000672.1:g.50681535C>T	GRCh37
NC_000010.9:g.50351541C>T	NCBI36
NG_009442.1:g.70613G>A , LRG_465:g.70613G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2697G>A MANE Select	ENSP00000348089.5:p.Thr899=
ENST00000681632.1:n.3214G>A
ENST00000681659.1:c.2538G>A	ENSP00000505631.1:p.Thr846=
ENST00000355832.9:c.2697G>A	ENSP00000348089.5:p.Thr899=
ENST00000623073.3:c.*993G>A	ENSP00000485650.1:n.*993G>A
ENST00000623115.3:c.807G>A	ENSP00000485321.1:p.Thr269=
ENST00000624341.3:c.529G>A
NM_000124.3:c.2697G>A	NP_000115.1:p.Thr899=
NM_001346440.1:c.2697G>A	NP_001333369.1:p.Thr899=
NM_000124.4:c.2697G>A MANE Select	NP_000115.1:p.Thr899=
NM_001346440.2:c.2697G>A	NP_001333369.1:p.Thr899=