Canonical Allele Identifier: CA1908745533

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461531G= , CM000672.2:g.49461531G=	GRCh38
NC_000010.10:g.50669577G= , CM000672.1:g.50669577G=	GRCh37
NC_000010.9:g.50339583G=	NCBI36
NG_009442.1:g.82571C= , LRG_465:g.82571C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3804C= MANE Select	ENSP00000348089.5:p.His1268=
ENST00000679552.1:n.875C=
ENST00000679871.1:n.950C=
ENST00000679974.1:n.853C=
ENST00000681632.1:n.5207C=
ENST00000681659.1:c.3645C=	ENSP00000505631.1:p.His1215=
ENST00000355832.9:c.3804C=	ENSP00000348089.5:p.His1268=
ENST00000465653.1:n.126C=
ENST00000623073.3:c.*2100C=	ENSP00000485650.1:n.*2100C=
ENST00000623115.3:c.1914C=	ENSP00000485321.1:p.His638=
ENST00000624341.3:c.1636C=
NM_000124.3:c.3804C=	NP_000115.1:p.His1268=
XR_945953.1:n.243-10034G=
NM_001346440.1:c.3804C=	NP_001333369.1:p.His1268=
NM_000124.4:c.3804C= MANE Select	NP_000115.1:p.His1268=
NM_001346440.2:c.3804C=	NP_001333369.1:p.His1268=