Canonical Allele Identifier: CA1908749439

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470500A= , CM000672.2:g.49470500A=	GRCh38
NC_000010.10:g.50678546A= , CM000672.1:g.50678546A=	GRCh37
NC_000010.9:g.50348552A=	NCBI36
NG_009442.1:g.73602T= , LRG_465:g.73602T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3460T= MANE Select	ENSP00000348089.5:p.Ser1154=
ENST00000679552.1:n.531T=
ENST00000679871.1:n.606T=
ENST00000679974.1:n.509T=
ENST00000681632.1:n.4863T=
ENST00000681659.1:c.3301T=	ENSP00000505631.1:p.Ser1101=
ENST00000355832.9:c.3460T=	ENSP00000348089.5:p.Ser1154=
ENST00000623073.3:c.*1756T=	ENSP00000485650.1:n.*1756T=
ENST00000623115.3:c.1570T=	ENSP00000485321.1:p.Ser524=
ENST00000624341.3:c.1292T=
NM_000124.3:c.3460T=	NP_000115.1:p.Ser1154=
XR_945953.1:n.243-1065A=
NM_001346440.1:c.3460T=	NP_001333369.1:p.Ser1154=
NM_000124.4:c.3460T= MANE Select	NP_000115.1:p.Ser1154=
NM_001346440.2:c.3460T=	NP_001333369.1:p.Ser1154=