Canonical Allele Identifier: CA5495866

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2165880
• ClinVar RCV Id: RCV003084600
• dbSNP Id: rs746568207
• ExAC: 10:50701206 C / G
• gnomAD v2: 10-50701206-C-G
• gnomAD v4: 10-49493160-C-G
• MyVariant Identifiers: chr10:g.50701206C>G (hg19) ; chr10:g.49493160C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493160C>G , CM000672.2:g.49493160C>G	GRCh38
NC_000010.10:g.50701206C>G , CM000672.1:g.50701206C>G	GRCh37
NC_000010.9:g.50371212C>G	NCBI36
NG_009442.1:g.50942G>C , LRG_465:g.50942G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1778G>C MANE Select	ENSP00000348089.5:p.Arg593Thr
ENST00000681632.1:n.1856G>C
ENST00000681659.1:c.1619G>C	ENSP00000505631.1:p.Arg540Thr
ENST00000355832.9:c.1778G>C	ENSP00000348089.5:p.Arg593Thr
ENST00000475116.1:n.275+7378G>C
ENST00000623073.3:c.179G>C	ENSP00000485650.1:p.Arg60Thr
ENST00000623115.3:c.-70+7378G>C	ENSP00000485321.1:n.-70+7378G>C
ENST00000623318.1:c.179G>C	ENSP00000485423.1:p.Arg60Thr
NM_000124.3:c.1778G>C	NP_000115.1:p.Arg593Thr
NM_001346440.1:c.1778G>C	NP_001333369.1:p.Arg593Thr
NM_000124.4:c.1778G>C MANE Select	NP_000115.1:p.Arg593Thr
NM_001346440.2:c.1778G>C	NP_001333369.1:p.Arg593Thr