Canonical Allele Identifier: CA469604067

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50690886A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482840A>T , CM000672.2:g.49482840A>T	GRCh38
NC_000010.10:g.50690886A>T , CM000672.1:g.50690886A>T	GRCh37
NC_000010.9:g.50360892A>T	NCBI36
NG_009442.1:g.61262T>A , LRG_465:g.61262T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2016T>A MANE Select	ENSP00000348089.5:p.Ile672=
ENST00000681632.1:n.2094T>A
ENST00000681659.1:c.1857T>A	ENSP00000505631.1:p.Ile619=
ENST00000355832.9:c.2016T>A	ENSP00000348089.5:p.Ile672=
ENST00000623073.3:c.*408T>A	ENSP00000485650.1:n.*408T>A
ENST00000623115.3:c.126T>A	ENSP00000485321.1:p.Ile42=
NM_000124.3:c.2016T>A	NP_000115.1:p.Ile672=
NM_001346440.1:c.2016T>A	NP_001333369.1:p.Ile672=
NM_000124.4:c.2016T>A MANE Select	NP_000115.1:p.Ile672=
NM_001346440.2:c.2016T>A	NP_001333369.1:p.Ile672=