Canonical Allele Identifier: CA5495311

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2162326
• ClinVar RCV Id: RCV003070182
• dbSNP Id: rs770541513
• ExAC: 10:50678374 T / C
• gnomAD v2: 10-50678374-T-C
• gnomAD v3: 10-49470328-T-C
• gnomAD v4: 10-49470328-T-C
• MyVariant Identifiers: chr10:g.50678374T>C (hg19) ; chr10:g.49470328T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470328T>C , CM000672.2:g.49470328T>C	GRCh38
NC_000010.10:g.50678374T>C , CM000672.1:g.50678374T>C	GRCh37
NC_000010.9:g.50348380T>C	NCBI36
NG_009442.1:g.73774A>G , LRG_465:g.73774A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3632A>G MANE Select	ENSP00000348089.5:p.His1211Arg
ENST00000679552.1:n.703A>G
ENST00000679871.1:n.778A>G
ENST00000679974.1:n.681A>G
ENST00000681632.1:n.5035A>G
ENST00000681659.1:c.3473A>G	ENSP00000505631.1:p.His1158Arg
ENST00000355832.9:c.3632A>G	ENSP00000348089.5:p.His1211Arg
ENST00000623073.3:c.*1928A>G	ENSP00000485650.1:n.*1928A>G
ENST00000623115.3:c.1742A>G	ENSP00000485321.1:p.His581Arg
ENST00000624341.3:c.1464A>G
NM_000124.3:c.3632A>G	NP_000115.1:p.His1211Arg
XR_945953.1:n.243-1237T>C
NM_001346440.1:c.3632A>G	NP_001333369.1:p.His1211Arg
NM_000124.4:c.3632A>G MANE Select	NP_000115.1:p.His1211Arg
NM_001346440.2:c.3632A>G	NP_001333369.1:p.His1211Arg