Canonical Allele Identifier: CA1908745518

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461489C= , CM000672.2:g.49461489C=	GRCh38
NC_000010.10:g.50669535C= , CM000672.1:g.50669535C=	GRCh37
NC_000010.9:g.50339541C=	NCBI36
NG_009442.1:g.82613G= , LRG_465:g.82613G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3846G= MANE Select	ENSP00000348089.5:p.Val1282=
ENST00000679552.1:n.917G=
ENST00000679871.1:n.992G=
ENST00000679974.1:n.895G=
ENST00000681632.1:n.5249G=
ENST00000681659.1:c.3687G=	ENSP00000505631.1:p.Val1229=
ENST00000355832.9:c.3846G=	ENSP00000348089.5:p.Val1282=
ENST00000465653.1:n.168G=
ENST00000623073.3:c.*2142G=	ENSP00000485650.1:n.*2142G=
ENST00000623115.3:c.1956G=	ENSP00000485321.1:p.Val652=
ENST00000624341.3:c.1678G=
NM_000124.3:c.3846G=	NP_000115.1:p.Val1282=
XR_945953.1:n.243-10076C=
NM_001346440.1:c.3846G=	NP_001333369.1:p.Val1282=
NM_000124.4:c.3846G= MANE Select	NP_000115.1:p.Val1282=
NM_001346440.2:c.3846G=	NP_001333369.1:p.Val1282=