Canonical Allele Identifier: CA1908749675

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471007G= , CM000672.2:g.49471007G=	GRCh38
NC_000010.10:g.50679053G= , CM000672.1:g.50679053G=	GRCh37
NC_000010.9:g.50349059G=	NCBI36
NG_009442.1:g.73095C= , LRG_465:g.73095C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3038C= MANE Select	ENSP00000348089.5:p.Ser1013=
ENST00000679552.1:n.142-118C=
ENST00000679871.1:n.184C=
ENST00000679974.1:n.120-118C=
ENST00000681632.1:n.4441C=
ENST00000681659.1:c.2879C=	ENSP00000505631.1:p.Ser960=
ENST00000355832.9:c.3038C=	ENSP00000348089.5:p.Ser1013=
ENST00000623073.3:c.*1334C=	ENSP00000485650.1:n.*1334C=
ENST00000623115.3:c.1148C=	ENSP00000485321.1:p.Ser383=
ENST00000624341.3:c.870C=
NM_000124.3:c.3038C=	NP_000115.1:p.Ser1013=
XR_945953.1:n.243-558G=
NM_001346440.1:c.3038C=	NP_001333369.1:p.Ser1013=
NM_000124.4:c.3038C= MANE Select	NP_000115.1:p.Ser1013=
NM_001346440.2:c.3038C=	NP_001333369.1:p.Ser1013=