Canonical Allele Identifier: CA1908745510

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461472C= , CM000672.2:g.49461472C=	GRCh38
NC_000010.10:g.50669518C= , CM000672.1:g.50669518C=	GRCh37
NC_000010.9:g.50339524C=	NCBI36
NG_009442.1:g.82630G= , LRG_465:g.82630G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3863G= MANE Select	ENSP00000348089.5:p.Arg1288=
ENST00000679552.1:n.934G=
ENST00000679871.1:n.1009G=
ENST00000679974.1:n.912G=
ENST00000681632.1:n.5266G=
ENST00000681659.1:c.3704G=	ENSP00000505631.1:p.Arg1235=
ENST00000355832.9:c.3863G=	ENSP00000348089.5:p.Arg1288=
ENST00000465653.1:n.185G=
ENST00000623073.3:c.*2159G=	ENSP00000485650.1:n.*2159G=
ENST00000623115.3:c.1973G=	ENSP00000485321.1:p.Arg658=
ENST00000624341.3:c.1695G=
NM_000124.3:c.3863G=	NP_000115.1:p.Arg1288=
XR_945953.1:n.243-10093C=
NM_001346440.1:c.3863G=	NP_001333369.1:p.Arg1288=
NM_000124.4:c.3863G= MANE Select	NP_000115.1:p.Arg1288=
NM_001346440.2:c.3863G=	NP_001333369.1:p.Arg1288=