Canonical Allele Identifier: CA469604046

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482809G>T , CM000672.2:g.49482809G>T	GRCh38
NC_000010.10:g.50690855G>T , CM000672.1:g.50690855G>T	GRCh37
NC_000010.9:g.50360861G>T	NCBI36
NG_009442.1:g.61293C>A , LRG_465:g.61293C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.2047C>A MANE Select	NP_000115.1:p.Arg683=
ENST00000355832.10:c.2047C>A MANE Select	ENSP00000348089.5:p.Arg683=
NM_000124.3:c.2047C>A	NP_000115.1:p.Arg683=
NM_001346440.1:c.2047C>A	NP_001333369.1:p.Arg683=
NM_001346440.2:c.2047C>A	NP_001333369.1:p.Arg683=
ENST00000355832.9:c.2047C>A	ENSP00000348089.5:p.Arg683=
ENST00000623073.3:c.*439C>A	ENSP00000485650.1:n.*439C>A
ENST00000623115.3:c.157C>A	ENSP00000485321.1:p.Arg53=
ENST00000681632.1:n.2125C>A
ENST00000681659.1:c.1888C>A	ENSP00000505631.1:p.Arg630=