Canonical Allele Identifier: CA1908745520

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461495T= , CM000672.2:g.49461495T=	GRCh38
NC_000010.10:g.50669541T= , CM000672.1:g.50669541T=	GRCh37
NC_000010.9:g.50339547T=	NCBI36
NG_009442.1:g.82607A= , LRG_465:g.82607A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3840A= MANE Select	ENSP00000348089.5:p.Val1280=
ENST00000679552.1:n.911A=
ENST00000679871.1:n.986A=
ENST00000679974.1:n.889A=
ENST00000681632.1:n.5243A=
ENST00000681659.1:c.3681A=	ENSP00000505631.1:p.Val1227=
ENST00000355832.9:c.3840A=	ENSP00000348089.5:p.Val1280=
ENST00000465653.1:n.162A=
ENST00000623073.3:c.*2136A=	ENSP00000485650.1:n.*2136A=
ENST00000623115.3:c.1950A=	ENSP00000485321.1:p.Val650=
ENST00000624341.3:c.1672A=
NM_000124.3:c.3840A=	NP_000115.1:p.Val1280=
XR_945953.1:n.243-10070T=
NM_001346440.1:c.3840A=	NP_001333369.1:p.Val1280=
NM_000124.4:c.3840A= MANE Select	NP_000115.1:p.Val1280=
NM_001346440.2:c.3840A=	NP_001333369.1:p.Val1280=