Canonical Allele Identifier: CA376713786

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850753877
• MyVariant Identifiers: chr10:g.50678443T>C (hg19) ; chr10:g.49470397T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470397T>C , CM000672.2:g.49470397T>C	GRCh38
NC_000010.10:g.50678443T>C , CM000672.1:g.50678443T>C	GRCh37
NC_000010.9:g.50348449T>C	NCBI36
NG_009442.1:g.73705A>G , LRG_465:g.73705A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3563A>G MANE Select	ENSP00000348089.5:p.His1188Arg
ENST00000679552.1:n.634A>G
ENST00000679871.1:n.709A>G
ENST00000679974.1:n.612A>G
ENST00000681632.1:n.4966A>G
ENST00000681659.1:c.3404A>G	ENSP00000505631.1:p.His1135Arg
ENST00000355832.9:c.3563A>G	ENSP00000348089.5:p.His1188Arg
ENST00000623073.3:c.*1859A>G	ENSP00000485650.1:n.*1859A>G
ENST00000623115.3:c.1673A>G	ENSP00000485321.1:p.His558Arg
ENST00000624341.3:c.1395A>G
NM_000124.3:c.3563A>G	NP_000115.1:p.His1188Arg
XR_945953.1:n.243-1168T>C
NM_001346440.1:c.3563A>G	NP_001333369.1:p.His1188Arg
NM_000124.4:c.3563A>G MANE Select	NP_000115.1:p.His1188Arg
NM_001346440.2:c.3563A>G	NP_001333369.1:p.His1188Arg