Canonical Allele Identifier: CA1908749660

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470962T= , CM000672.2:g.49470962T=	GRCh38
NC_000010.10:g.50679008T= , CM000672.1:g.50679008T=	GRCh37
NC_000010.9:g.50349014T=	NCBI36
NG_009442.1:g.73140A= , LRG_465:g.73140A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3070+13A= MANE Select	ENSP00000348089.5:n.3070+13A=
ENST00000679552.1:n.142-73A=
ENST00000679871.1:n.216+13A=
ENST00000679974.1:n.120-73A=
ENST00000681632.1:n.4473+13A=
ENST00000681659.1:c.2911+13A=	ENSP00000505631.1:n.2911+13A=
ENST00000355832.9:c.3070+13A=	ENSP00000348089.5:n.3070+13A=
ENST00000623073.3:c.*1366+13A=	ENSP00000485650.1:n.*1366+13A=
ENST00000623115.3:c.1180+13A=	ENSP00000485321.1:n.1180+13A=
ENST00000624341.3:c.902+13A=
NM_000124.3:c.3070+13A=	NP_000115.1:n.3070+13A=
XR_945953.1:n.243-603T=
NM_001346440.1:c.3070+13A=	NP_001333369.1:n.3070+13A=
NM_000124.4:c.3070+13A= MANE Select	NP_000115.1:n.3070+13A=
NM_001346440.2:c.3070+13A=	NP_001333369.1:n.3070+13A=