Canonical Allele Identifier: CA1908749570

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470792G= , CM000672.2:g.49470792G=	GRCh38
NC_000010.10:g.50678838G= , CM000672.1:g.50678838G=	GRCh37
NC_000010.9:g.50348844G=	NCBI36
NG_009442.1:g.73310C= , LRG_465:g.73310C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3168C= MANE Select	ENSP00000348089.5:p.Phe1056=
ENST00000679552.1:n.239C=
ENST00000679871.1:n.314C=
ENST00000679974.1:n.217C=
ENST00000681632.1:n.4571C=
ENST00000681659.1:c.3009C=	ENSP00000505631.1:p.Phe1003=
ENST00000355832.9:c.3168C=	ENSP00000348089.5:p.Phe1056=
ENST00000623073.3:c.*1464C=	ENSP00000485650.1:n.*1464C=
ENST00000623115.3:c.1278C=	ENSP00000485321.1:p.Phe426=
ENST00000624341.3:c.1000C=
NM_000124.3:c.3168C=	NP_000115.1:p.Phe1056=
XR_945953.1:n.243-773G=
NM_001346440.1:c.3168C=	NP_001333369.1:p.Phe1056=
NM_000124.4:c.3168C= MANE Select	NP_000115.1:p.Phe1056=
NM_001346440.2:c.3168C=	NP_001333369.1:p.Phe1056=