Canonical Allele Identifier: CA1908749417

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470455A= , CM000672.2:g.49470455A=	GRCh38
NC_000010.10:g.50678501A= , CM000672.1:g.50678501A=	GRCh37
NC_000010.9:g.50348507A=	NCBI36
NG_009442.1:g.73647T= , LRG_465:g.73647T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3505T= MANE Select	ENSP00000348089.5:p.Trp1169=
ENST00000679552.1:n.576T=
ENST00000679871.1:n.651T=
ENST00000679974.1:n.554T=
ENST00000681632.1:n.4908T=
ENST00000681659.1:c.3346T=	ENSP00000505631.1:p.Trp1116=
ENST00000355832.9:c.3505T=	ENSP00000348089.5:p.Trp1169=
ENST00000623073.3:c.*1801T=	ENSP00000485650.1:n.*1801T=
ENST00000623115.3:c.1615T=	ENSP00000485321.1:p.Trp539=
ENST00000624341.3:c.1337T=
NM_000124.3:c.3505T=	NP_000115.1:p.Trp1169=
XR_945953.1:n.243-1110A=
NM_001346440.1:c.3505T=	NP_001333369.1:p.Trp1169=
NM_000124.4:c.3505T= MANE Select	NP_000115.1:p.Trp1169=
NM_001346440.2:c.3505T=	NP_001333369.1:p.Trp1169=