Canonical Allele Identifier: CA1908760109

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482691A= , CM000672.2:g.49482691A=	GRCh38
NC_000010.10:g.50690737A= , CM000672.1:g.50690737A=	GRCh37
NC_000010.9:g.50360743A=	NCBI36
NG_009442.1:g.61411T= , LRG_465:g.61411T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2165T= MANE Select	ENSP00000348089.5:p.Val722=
ENST00000681632.1:n.2243T=
ENST00000681659.1:c.2006T=	ENSP00000505631.1:p.Val669=
ENST00000355832.9:c.2165T=	ENSP00000348089.5:p.Val722=
ENST00000623073.3:c.*557T=	ENSP00000485650.1:n.*557T=
ENST00000623115.3:c.275T=	ENSP00000485321.1:p.Val92=
NM_000124.3:c.2165T=	NP_000115.1:p.Val722=
NM_001346440.1:c.2165T=	NP_001333369.1:p.Val722=
NM_000124.4:c.2165T= MANE Select	NP_000115.1:p.Val722=
NM_001346440.2:c.2165T=	NP_001333369.1:p.Val722=