Canonical Allele Identifier: CA1908761176

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49483384G= , CM000672.2:g.49483384G=	GRCh38
NC_000010.10:g.50691430G= , CM000672.1:g.50691430G=	GRCh37
NC_000010.9:g.50361436G=	NCBI36
NG_009442.1:g.60718C= , LRG_465:g.60718C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.1954C= MANE Select	NP_000115.1:p.Arg652=
ENST00000355832.10:c.1954C= MANE Select	ENSP00000348089.5:p.Arg652=
NM_000124.3:c.1954C=	NP_000115.1:p.Arg652=
NM_001346440.1:c.1954C=	NP_001333369.1:p.Arg652=
NM_001346440.2:c.1954C=	NP_001333369.1:p.Arg652=
ENST00000355832.9:c.1954C=	ENSP00000348089.5:p.Arg652=
ENST00000475116.1:n.408C=
ENST00000623073.3:c.*346C=	ENSP00000485650.1:n.*346C=
ENST00000623115.3:c.64C=	ENSP00000485321.1:p.Arg22=
ENST00000681632.1:n.2032C=
ENST00000681659.1:c.1795C=	ENSP00000505631.1:p.Arg599=