Canonical Allele Identifier: CA1908745538

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461542C= , CM000672.2:g.49461542C=	GRCh38
NC_000010.10:g.50669588C= , CM000672.1:g.50669588C=	GRCh37
NC_000010.9:g.50339594C=	NCBI36
NG_009442.1:g.82560G= , LRG_465:g.82560G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3793G= MANE Select	ENSP00000348089.5:p.Val1265=
ENST00000679552.1:n.864G=
ENST00000679871.1:n.939G=
ENST00000679974.1:n.842G=
ENST00000681632.1:n.5196G=
ENST00000681659.1:c.3634G=	ENSP00000505631.1:p.Val1212=
ENST00000355832.9:c.3793G=	ENSP00000348089.5:p.Val1265=
ENST00000465653.1:n.115G=
ENST00000623073.3:c.*2089G=	ENSP00000485650.1:n.*2089G=
ENST00000623115.3:c.1903G=	ENSP00000485321.1:p.Val635=
ENST00000624341.3:c.1625G=
NM_000124.3:c.3793G=	NP_000115.1:p.Val1265=
XR_945953.1:n.243-10023C=
NM_001346440.1:c.3793G=	NP_001333369.1:p.Val1265=
NM_000124.4:c.3793G= MANE Select	NP_000115.1:p.Val1265=
NM_001346440.2:c.3793G=	NP_001333369.1:p.Val1265=