Canonical Allele Identifier: CA1908749431

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470483T= , CM000672.2:g.49470483T=	GRCh38
NC_000010.10:g.50678529T= , CM000672.1:g.50678529T=	GRCh37
NC_000010.9:g.50348535T=	NCBI36
NG_009442.1:g.73619A= , LRG_465:g.73619A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3477A= MANE Select	ENSP00000348089.5:p.Arg1159=
ENST00000679552.1:n.548A=
ENST00000679871.1:n.623A=
ENST00000679974.1:n.526A=
ENST00000681632.1:n.4880A=
ENST00000681659.1:c.3318A=	ENSP00000505631.1:p.Arg1106=
ENST00000355832.9:c.3477A=	ENSP00000348089.5:p.Arg1159=
ENST00000623073.3:c.*1773A=	ENSP00000485650.1:n.*1773A=
ENST00000623115.3:c.1587A=	ENSP00000485321.1:p.Arg529=
ENST00000624341.3:c.1309A=
NM_000124.3:c.3477A=	NP_000115.1:p.Arg1159=
XR_945953.1:n.243-1082T=
NM_001346440.1:c.3477A=	NP_001333369.1:p.Arg1159=
NM_000124.4:c.3477A= MANE Select	NP_000115.1:p.Arg1159=
NM_001346440.2:c.3477A=	NP_001333369.1:p.Arg1159=