Canonical Allele Identifier: CA277416

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 210955
• ClinVar RCV Id: RCV000195010 ; RCV000675120 ; RCV001063571 ; RCV001844081
• dbSNP Id: rs368728467
• MyVariant Identifiers: chr10:g.50682120A>G (hg19) ; chr10:g.49474074A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49474074A>G , CM000672.2:g.49474074A>G	GRCh38
NC_000010.10:g.50682120A>G , CM000672.1:g.50682120A>G	GRCh37
NC_000010.9:g.50352126A>G	NCBI36
NG_009442.1:g.70028T>C , LRG_465:g.70028T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2551T>C MANE Select	ENSP00000348089.5:p.Trp851Arg
ENST00000681632.1:n.2629T>C
ENST00000681659.1:c.2392T>C	ENSP00000505631.1:p.Trp798Arg
ENST00000355832.9:c.2551T>C	ENSP00000348089.5:p.Trp851Arg
ENST00000623073.3:c.*847T>C	ENSP00000485650.1:n.*847T>C
ENST00000623115.3:c.661T>C	ENSP00000485321.1:p.Trp221Arg
ENST00000624341.3:c.383T>C
NM_000124.3:c.2551T>C	NP_000115.1:p.Trp851Arg
NM_001346440.1:c.2551T>C	NP_001333369.1:p.Trp851Arg
NM_000124.4:c.2551T>C MANE Select	NP_000115.1:p.Trp851Arg
NM_001346440.2:c.2551T>C	NP_001333369.1:p.Trp851Arg