Canonical Allele Identifier: CA1908749547

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470749C= , CM000672.2:g.49470749C=	GRCh38
NC_000010.10:g.50678795C= , CM000672.1:g.50678795C=	GRCh37
NC_000010.9:g.50348801C=	NCBI36
NG_009442.1:g.73353G= , LRG_465:g.73353G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3211G= MANE Select	ENSP00000348089.5:p.Glu1071=
ENST00000679552.1:n.282G=
ENST00000679871.1:n.357G=
ENST00000679974.1:n.260G=
ENST00000681632.1:n.4614G=
ENST00000681659.1:c.3052G=	ENSP00000505631.1:p.Glu1018=
ENST00000355832.9:c.3211G=	ENSP00000348089.5:p.Glu1071=
ENST00000623073.3:c.*1507G=	ENSP00000485650.1:n.*1507G=
ENST00000623115.3:c.1321G=	ENSP00000485321.1:p.Glu441=
ENST00000624341.3:c.1043G=
NM_000124.3:c.3211G=	NP_000115.1:p.Glu1071=
XR_945953.1:n.243-816C=
NM_001346440.1:c.3211G=	NP_001333369.1:p.Glu1071=
NM_000124.4:c.3211G= MANE Select	NP_000115.1:p.Glu1071=
NM_001346440.2:c.3211G=	NP_001333369.1:p.Glu1071=