Canonical Allele Identifier: CA1908749323

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470285C= , CM000672.2:g.49470285C=	GRCh38
NC_000010.10:g.50678331C= , CM000672.1:g.50678331C=	GRCh37
NC_000010.9:g.50348337C=	NCBI36
NG_009442.1:g.73817G= , LRG_465:g.73817G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3675G= MANE Select	ENSP00000348089.5:p.Leu1225=
ENST00000679552.1:n.746G=
ENST00000679871.1:n.821G=
ENST00000679974.1:n.724G=
ENST00000681632.1:n.5078G=
ENST00000681659.1:c.3516G=	ENSP00000505631.1:p.Leu1172=
ENST00000355832.9:c.3675G=	ENSP00000348089.5:p.Leu1225=
ENST00000623073.3:c.*1971G=	ENSP00000485650.1:n.*1971G=
ENST00000623115.3:c.1785G=	ENSP00000485321.1:p.Leu595=
ENST00000624341.3:c.1507G=
NM_000124.3:c.3675G=	NP_000115.1:p.Leu1225=
XR_945953.1:n.243-1280C=
NM_001346440.1:c.3675G=	NP_001333369.1:p.Leu1225=
NM_000124.4:c.3675G= MANE Select	NP_000115.1:p.Leu1225=
NM_001346440.2:c.3675G=	NP_001333369.1:p.Leu1225=