Canonical Allele Identifier: CA5495765

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 284589
• ClinVar RCV Id: RCV000356873
• dbSNP Id: rs114832108
• ExAC: 10:50690778 G / A
• gnomAD v2: 10-50690778-G-A
• gnomAD v3: 10-49482732-G-A
• gnomAD v4: 10-49482732-G-A
• COSMIC: COSM1348076
• MyVariant Identifiers: chr10:g.50690778G>A (hg19) ; chr10:g.49482732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482732G>A , CM000672.2:g.49482732G>A	GRCh38
NC_000010.10:g.50690778G>A , CM000672.1:g.50690778G>A	GRCh37
NC_000010.9:g.50360784G>A	NCBI36
NG_009442.1:g.61370C>T , LRG_465:g.61370C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2124C>T MANE Select	ENSP00000348089.5:p.Ser708=
ENST00000681632.1:n.2202C>T
ENST00000681659.1:c.1965C>T	ENSP00000505631.1:p.Ser655=
ENST00000355832.9:c.2124C>T	ENSP00000348089.5:p.Ser708=
ENST00000623073.3:c.*516C>T	ENSP00000485650.1:n.*516C>T
ENST00000623115.3:c.234C>T	ENSP00000485321.1:p.Ser78=
NM_000124.3:c.2124C>T	NP_000115.1:p.Ser708=
NM_001346440.1:c.2124C>T	NP_001333369.1:p.Ser708=
NM_000124.4:c.2124C>T MANE Select	NP_000115.1:p.Ser708=
NM_001346440.2:c.2124C>T	NP_001333369.1:p.Ser708=