Canonical Allele Identifier: CA1908749389

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470400T= , CM000672.2:g.49470400T=	GRCh38
NC_000010.10:g.50678446T= , CM000672.1:g.50678446T=	GRCh37
NC_000010.9:g.50348452T=	NCBI36
NG_009442.1:g.73702A= , LRG_465:g.73702A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3560A= MANE Select	ENSP00000348089.5:p.His1187=
ENST00000679552.1:n.631A=
ENST00000679871.1:n.706A=
ENST00000679974.1:n.609A=
ENST00000681632.1:n.4963A=
ENST00000681659.1:c.3401A=	ENSP00000505631.1:p.His1134=
ENST00000355832.9:c.3560A=	ENSP00000348089.5:p.His1187=
ENST00000623073.3:c.*1856A=	ENSP00000485650.1:n.*1856A=
ENST00000623115.3:c.1670A=	ENSP00000485321.1:p.His557=
ENST00000624341.3:c.1392A=
NM_000124.3:c.3560A=	NP_000115.1:p.His1187=
XR_945953.1:n.243-1165T=
NM_001346440.1:c.3560A=	NP_001333369.1:p.His1187=
NM_000124.4:c.3560A= MANE Select	NP_000115.1:p.His1187=
NM_001346440.2:c.3560A=	NP_001333369.1:p.His1187=