Canonical Allele Identifier: CA1908760609

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482859C= , CM000672.2:g.49482859C=	GRCh38
NC_000010.10:g.50690905C= , CM000672.1:g.50690905C=	GRCh37
NC_000010.9:g.50360911C=	NCBI36
NG_009442.1:g.61243G= , LRG_465:g.61243G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1997G= MANE Select	ENSP00000348089.5:p.Arg666=
ENST00000681632.1:n.2075G=
ENST00000681659.1:c.1838G=	ENSP00000505631.1:p.Arg613=
ENST00000355832.9:c.1997G=	ENSP00000348089.5:p.Arg666=
ENST00000623073.3:c.*389G=	ENSP00000485650.1:n.*389G=
ENST00000623115.3:c.107G=	ENSP00000485321.1:p.Arg36=
NM_000124.3:c.1997G=	NP_000115.1:p.Arg666=
NM_001346440.1:c.1997G=	NP_001333369.1:p.Arg666=
NM_000124.4:c.1997G= MANE Select	NP_000115.1:p.Arg666=
NM_001346440.2:c.1997G=	NP_001333369.1:p.Arg666=