Canonical Allele Identifier: CA1908749463

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470548T= , CM000672.2:g.49470548T=	GRCh38
NC_000010.10:g.50678594T= , CM000672.1:g.50678594T=	GRCh37
NC_000010.9:g.50348600T=	NCBI36
NG_009442.1:g.73554A= , LRG_465:g.73554A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3412A= MANE Select	ENSP00000348089.5:p.Thr1138=
ENST00000679552.1:n.483A=
ENST00000679871.1:n.558A=
ENST00000679974.1:n.461A=
ENST00000681632.1:n.4815A=
ENST00000681659.1:c.3253A=	ENSP00000505631.1:p.Thr1085=
ENST00000355832.9:c.3412A=	ENSP00000348089.5:p.Thr1138=
ENST00000623073.3:c.*1708A=	ENSP00000485650.1:n.*1708A=
ENST00000623115.3:c.1522A=	ENSP00000485321.1:p.Thr508=
ENST00000624341.3:c.1244A=
NM_000124.3:c.3412A=	NP_000115.1:p.Thr1138=
XR_945953.1:n.243-1017T=
NM_001346440.1:c.3412A=	NP_001333369.1:p.Thr1138=
NM_000124.4:c.3412A= MANE Select	NP_000115.1:p.Thr1138=
NM_001346440.2:c.3412A=	NP_001333369.1:p.Thr1138=