Canonical Allele Identifier: CA1908755808

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49478437G= , CM000672.2:g.49478437G=	GRCh38
NC_000010.10:g.50686483G= , CM000672.1:g.50686483G=	GRCh37
NC_000010.9:g.50356489G=	NCBI36
NG_009442.1:g.65665C= , LRG_465:g.65665C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.2203C= MANE Select	NP_000115.1:p.Arg735=
ENST00000355832.10:c.2203C= MANE Select	ENSP00000348089.5:p.Arg735=
NM_000124.3:c.2203C=	NP_000115.1:p.Arg735=
NM_001346440.1:c.2203C=	NP_001333369.1:p.Arg735=
NM_001346440.2:c.2203C=	NP_001333369.1:p.Arg735=
ENST00000355832.9:c.2203C=	ENSP00000348089.5:p.Arg735=
ENST00000623073.3:c.*595C=	ENSP00000485650.1:n.*595C=
ENST00000623115.3:c.313C=	ENSP00000485321.1:p.Arg105=
ENST00000681632.1:n.2281C=
ENST00000681659.1:c.2044C=	ENSP00000505631.1:p.Arg682=