Canonical Allele Identifier: CA1908749446

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470515C= , CM000672.2:g.49470515C=	GRCh38
NC_000010.10:g.50678561C= , CM000672.1:g.50678561C=	GRCh37
NC_000010.9:g.50348567C=	NCBI36
NG_009442.1:g.73587G= , LRG_465:g.73587G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3445G= MANE Select	ENSP00000348089.5:p.Glu1149=
ENST00000679552.1:n.516G=
ENST00000679871.1:n.591G=
ENST00000679974.1:n.494G=
ENST00000681632.1:n.4848G=
ENST00000681659.1:c.3286G=	ENSP00000505631.1:p.Glu1096=
ENST00000355832.9:c.3445G=	ENSP00000348089.5:p.Glu1149=
ENST00000623073.3:c.*1741G=	ENSP00000485650.1:n.*1741G=
ENST00000623115.3:c.1555G=	ENSP00000485321.1:p.Glu519=
ENST00000624341.3:c.1277G=
NM_000124.3:c.3445G=	NP_000115.1:p.Glu1149=
XR_945953.1:n.243-1050C=
NM_001346440.1:c.3445G=	NP_001333369.1:p.Glu1149=
NM_000124.4:c.3445G= MANE Select	NP_000115.1:p.Glu1149=
NM_001346440.2:c.3445G=	NP_001333369.1:p.Glu1149=