Canonical Allele Identifier: CA376715225

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678609A>T (hg19) ; chr10:g.49470563A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470563A>T , CM000672.2:g.49470563A>T	GRCh38
NC_000010.10:g.50678609A>T , CM000672.1:g.50678609A>T	GRCh37
NC_000010.9:g.50348615A>T	NCBI36
NG_009442.1:g.73539T>A , LRG_465:g.73539T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3397T>A MANE Select	ENSP00000348089.5:p.Ser1133Thr
ENST00000679552.1:n.468T>A
ENST00000679871.1:n.543T>A
ENST00000679974.1:n.446T>A
ENST00000681632.1:n.4800T>A
ENST00000681659.1:c.3238T>A	ENSP00000505631.1:p.Ser1080Thr
ENST00000355832.9:c.3397T>A	ENSP00000348089.5:p.Ser1133Thr
ENST00000623073.3:c.*1693T>A	ENSP00000485650.1:n.*1693T>A
ENST00000623115.3:c.1507T>A	ENSP00000485321.1:p.Ser503Thr
ENST00000624341.3:c.1229T>A
NM_000124.3:c.3397T>A	NP_000115.1:p.Ser1133Thr
XR_945953.1:n.243-1002A>T
NM_001346440.1:c.3397T>A	NP_001333369.1:p.Ser1133Thr
NM_000124.4:c.3397T>A MANE Select	NP_000115.1:p.Ser1133Thr
NM_001346440.2:c.3397T>A	NP_001333369.1:p.Ser1133Thr