Canonical Allele Identifier: CA1908760621

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482860G= , CM000672.2:g.49482860G=	GRCh38
NC_000010.10:g.50690906G= , CM000672.1:g.50690906G=	GRCh37
NC_000010.9:g.50360912G=	NCBI36
NG_009442.1:g.61242C= , LRG_465:g.61242C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.1996C= MANE Select	NP_000115.1:p.Arg666=
ENST00000355832.10:c.1996C= MANE Select	ENSP00000348089.5:p.Arg666=
NM_000124.3:c.1996C=	NP_000115.1:p.Arg666=
NM_001346440.1:c.1996C=	NP_001333369.1:p.Arg666=
NM_001346440.2:c.1996C=	NP_001333369.1:p.Arg666=
ENST00000355832.9:c.1996C=	ENSP00000348089.5:p.Arg666=
ENST00000623073.3:c.*388C=	ENSP00000485650.1:n.*388C=
ENST00000623115.3:c.106C=	ENSP00000485321.1:p.Arg36=
ENST00000681632.1:n.2074C=
ENST00000681659.1:c.1837C=	ENSP00000505631.1:p.Arg613=