Canonical Allele Identifier: CA1908745489

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461434G= , CM000672.2:g.49461434G=	GRCh38
NC_000010.10:g.50669480G= , CM000672.1:g.50669480G=	GRCh37
NC_000010.9:g.50339486G=	NCBI36
NG_009442.1:g.82668C= , LRG_465:g.82668C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3901C= MANE Select	ENSP00000348089.5:p.Arg1301=
ENST00000679552.1:n.972C=
ENST00000679871.1:n.1047C=
ENST00000679974.1:n.950C=
ENST00000681632.1:n.5304C=
ENST00000681659.1:c.3742C=	ENSP00000505631.1:p.Arg1248=
ENST00000355832.9:c.3901C=	ENSP00000348089.5:p.Arg1301=
ENST00000465653.1:n.223C=
ENST00000623073.3:c.*2197C=	ENSP00000485650.1:n.*2197C=
ENST00000623115.3:c.2011C=	ENSP00000485321.1:p.Arg671=
ENST00000624341.3:c.1733C=
NM_000124.3:c.3901C=	NP_000115.1:p.Arg1301=
XR_945953.1:n.243-10131G=
NM_001346440.1:c.3901C=	NP_001333369.1:p.Arg1301=
NM_000124.4:c.3901C= MANE Select	NP_000115.1:p.Arg1301=
NM_001346440.2:c.3901C=	NP_001333369.1:p.Arg1301=