Canonical Allele Identifier: CA1908749548

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470750T= , CM000672.2:g.49470750T=	GRCh38
NC_000010.10:g.50678796T= , CM000672.1:g.50678796T=	GRCh37
NC_000010.9:g.50348802T=	NCBI36
NG_009442.1:g.73352A= , LRG_465:g.73352A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3210A= MANE Select	ENSP00000348089.5:p.Glu1070=
ENST00000679552.1:n.281A=
ENST00000679871.1:n.356A=
ENST00000679974.1:n.259A=
ENST00000681632.1:n.4613A=
ENST00000681659.1:c.3051A=	ENSP00000505631.1:p.Glu1017=
ENST00000355832.9:c.3210A=	ENSP00000348089.5:p.Glu1070=
ENST00000623073.3:c.*1506A=	ENSP00000485650.1:n.*1506A=
ENST00000623115.3:c.1320A=	ENSP00000485321.1:p.Glu440=
ENST00000624341.3:c.1042A=
NM_000124.3:c.3210A=	NP_000115.1:p.Glu1070=
XR_945953.1:n.243-815T=
NM_001346440.1:c.3210A=	NP_001333369.1:p.Glu1070=
NM_000124.4:c.3210A= MANE Select	NP_000115.1:p.Glu1070=
NM_001346440.2:c.3210A=	NP_001333369.1:p.Glu1070=