Canonical Allele Identifier: CA376708468

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669528C>G (hg19) ; chr10:g.49461482C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461482C>G , CM000672.2:g.49461482C>G	GRCh38
NC_000010.10:g.50669528C>G , CM000672.1:g.50669528C>G	GRCh37
NC_000010.9:g.50339534C>G	NCBI36
NG_009442.1:g.82620G>C , LRG_465:g.82620G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3853G>C MANE Select	ENSP00000348089.5:p.Glu1285Gln
ENST00000679552.1:n.924G>C
ENST00000679871.1:n.999G>C
ENST00000679974.1:n.902G>C
ENST00000681632.1:n.5256G>C
ENST00000681659.1:c.3694G>C	ENSP00000505631.1:p.Glu1232Gln
ENST00000355832.9:c.3853G>C	ENSP00000348089.5:p.Glu1285Gln
ENST00000465653.1:n.175G>C
ENST00000623073.3:c.*2149G>C	ENSP00000485650.1:n.*2149G>C
ENST00000623115.3:c.1963G>C	ENSP00000485321.1:p.Glu655Gln
ENST00000624341.3:c.1685G>C
NM_000124.3:c.3853G>C	NP_000115.1:p.Glu1285Gln
XR_945953.1:n.243-10083C>G
NM_001346440.1:c.3853G>C	NP_001333369.1:p.Glu1285Gln
NM_000124.4:c.3853G>C MANE Select	NP_000115.1:p.Glu1285Gln
NM_001346440.2:c.3853G>C	NP_001333369.1:p.Glu1285Gln