Canonical Allele Identifier: CA1908749573

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470802C= , CM000672.2:g.49470802C=	GRCh38
NC_000010.10:g.50678848C= , CM000672.1:g.50678848C=	GRCh37
NC_000010.9:g.50348854C=	NCBI36
NG_009442.1:g.73300G= , LRG_465:g.73300G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3158G= MANE Select	ENSP00000348089.5:p.Arg1053=
ENST00000679552.1:n.229G=
ENST00000679871.1:n.304G=
ENST00000679974.1:n.207G=
ENST00000681632.1:n.4561G=
ENST00000681659.1:c.2999G=	ENSP00000505631.1:p.Arg1000=
ENST00000355832.9:c.3158G=	ENSP00000348089.5:p.Arg1053=
ENST00000623073.3:c.*1454G=	ENSP00000485650.1:n.*1454G=
ENST00000623115.3:c.1268G=	ENSP00000485321.1:p.Arg423=
ENST00000624341.3:c.990G=
NM_000124.3:c.3158G=	NP_000115.1:p.Arg1053=
XR_945953.1:n.243-763C=
NM_001346440.1:c.3158G=	NP_001333369.1:p.Arg1053=
NM_000124.4:c.3158G= MANE Select	NP_000115.1:p.Arg1053=
NM_001346440.2:c.3158G=	NP_001333369.1:p.Arg1053=