Canonical Allele Identifier: CA1908749420

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470460G= , CM000672.2:g.49470460G=	GRCh38
NC_000010.10:g.50678506G= , CM000672.1:g.50678506G=	GRCh37
NC_000010.9:g.50348512G=	NCBI36
NG_009442.1:g.73642C= , LRG_465:g.73642C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3500C= MANE Select	ENSP00000348089.5:p.Ala1167=
ENST00000679552.1:n.571C=
ENST00000679871.1:n.646C=
ENST00000679974.1:n.549C=
ENST00000681632.1:n.4903C=
ENST00000681659.1:c.3341C=	ENSP00000505631.1:p.Ala1114=
ENST00000355832.9:c.3500C=	ENSP00000348089.5:p.Ala1167=
ENST00000623073.3:c.*1796C=	ENSP00000485650.1:n.*1796C=
ENST00000623115.3:c.1610C=	ENSP00000485321.1:p.Ala537=
ENST00000624341.3:c.1332C=
NM_000124.3:c.3500C=	NP_000115.1:p.Ala1167=
XR_945953.1:n.243-1105G=
NM_001346440.1:c.3500C=	NP_001333369.1:p.Ala1167=
NM_000124.4:c.3500C= MANE Select	NP_000115.1:p.Ala1167=
NM_001346440.2:c.3500C=	NP_001333369.1:p.Ala1167=