Canonical Allele Identifier: CA376712736

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678298A>T (hg19) ; chr10:g.49470252A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470252A>T , CM000672.2:g.49470252A>T	GRCh38
NC_000010.10:g.50678298A>T , CM000672.1:g.50678298A>T	GRCh37
NC_000010.9:g.50348304A>T	NCBI36
NG_009442.1:g.73850T>A , LRG_465:g.73850T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3708T>A MANE Select	ENSP00000348089.5:p.Ser1236Arg
ENST00000679552.1:n.779T>A
ENST00000679871.1:n.854T>A
ENST00000679974.1:n.757T>A
ENST00000681632.1:n.5111T>A
ENST00000681659.1:c.3549T>A	ENSP00000505631.1:p.Ser1183Arg
ENST00000355832.9:c.3708T>A	ENSP00000348089.5:p.Ser1236Arg
ENST00000465653.1:n.30T>A
ENST00000623073.3:c.*2004T>A	ENSP00000485650.1:n.*2004T>A
ENST00000623115.3:c.1818T>A	ENSP00000485321.1:p.Ser606Arg
ENST00000624341.3:c.1540T>A
NM_000124.3:c.3708T>A	NP_000115.1:p.Ser1236Arg
XR_945953.1:n.243-1313A>T
NM_001346440.1:c.3708T>A	NP_001333369.1:p.Ser1236Arg
NM_000124.4:c.3708T>A MANE Select	NP_000115.1:p.Ser1236Arg
NM_001346440.2:c.3708T>A	NP_001333369.1:p.Ser1236Arg