Canonical Allele Identifier: CA376708470

Gene: ERCC6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3853G>A MANE Select	ENSP00000348089.5:p.Glu1285Lys
ENST00000679552.1:n.924G>A
ENST00000679871.1:n.999G>A
ENST00000679974.1:n.902G>A
ENST00000681632.1:n.5256G>A
ENST00000681659.1:c.3694G>A	ENSP00000505631.1:p.Glu1232Lys
ENST00000355832.9:c.3853G>A	ENSP00000348089.5:p.Glu1285Lys
ENST00000465653.1:n.175G>A
ENST00000623073.3:c.*2149G>A	ENSP00000485650.1:n.*2149G>A
ENST00000623115.3:c.1963G>A	ENSP00000485321.1:p.Glu655Lys
ENST00000624341.3:c.1685G>A
NM_000124.3:c.3853G>A	NP_000115.1:p.Glu1285Lys
XR_945953.1:n.243-10083C>T
NM_001346440.1:c.3853G>A	NP_001333369.1:p.Glu1285Lys
NM_000124.4:c.3853G>A MANE Select	NP_000115.1:p.Glu1285Lys
NM_001346440.2:c.3853G>A	NP_001333369.1:p.Glu1285Lys