Canonical Allele Identifier: CA376714293

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1916512
• ClinVar RCV Id: RCV002590483
• dbSNP Id: rs1468186846
• gnomAD v2: 10-50678506-G-T
• gnomAD v4: 10-49470460-G-T
• MyVariant Identifiers: chr10:g.50678506G>T (hg19) ; chr10:g.49470460G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470460G>T , CM000672.2:g.49470460G>T	GRCh38
NC_000010.10:g.50678506G>T , CM000672.1:g.50678506G>T	GRCh37
NC_000010.9:g.50348512G>T	NCBI36
NG_009442.1:g.73642C>A , LRG_465:g.73642C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3500C>A MANE Select	ENSP00000348089.5:p.Ala1167Asp
ENST00000679552.1:n.571C>A
ENST00000679871.1:n.646C>A
ENST00000679974.1:n.549C>A
ENST00000681632.1:n.4903C>A
ENST00000681659.1:c.3341C>A	ENSP00000505631.1:p.Ala1114Asp
ENST00000355832.9:c.3500C>A	ENSP00000348089.5:p.Ala1167Asp
ENST00000623073.3:c.*1796C>A	ENSP00000485650.1:n.*1796C>A
ENST00000623115.3:c.1610C>A	ENSP00000485321.1:p.Ala537Asp
ENST00000624341.3:c.1332C>A
NM_000124.3:c.3500C>A	NP_000115.1:p.Ala1167Asp
XR_945953.1:n.243-1105G>T
NM_001346440.1:c.3500C>A	NP_001333369.1:p.Ala1167Asp
NM_000124.4:c.3500C>A MANE Select	NP_000115.1:p.Ala1167Asp
NM_001346440.2:c.3500C>A	NP_001333369.1:p.Ala1167Asp