Canonical Allele Identifier: CA1908761280

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49483504G= , CM000672.2:g.49483504G=	GRCh38
NC_000010.10:g.50691550G= , CM000672.1:g.50691550G=	GRCh37
NC_000010.9:g.50361556G=	NCBI36
NG_009442.1:g.60598C= , LRG_465:g.60598C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.1834C= MANE Select	NP_000115.1:p.Arg612=
ENST00000355832.10:c.1834C= MANE Select	ENSP00000348089.5:p.Arg612=
NM_000124.3:c.1834C=	NP_000115.1:p.Arg612=
NM_001346440.1:c.1834C=	NP_001333369.1:p.Arg612=
NM_001346440.2:c.1834C=	NP_001333369.1:p.Arg612=
ENST00000355832.9:c.1834C=	ENSP00000348089.5:p.Arg612=
ENST00000475116.1:n.288C=
ENST00000623073.3:c.*226C=	ENSP00000485650.1:n.*226C=
ENST00000623115.3:c.-57C=	ENSP00000485321.1:n.-57C=
ENST00000623318.1:c.235C=	ENSP00000485423.1:p.Arg79=
ENST00000681632.1:n.1912C=
ENST00000681659.1:c.1675C=	ENSP00000505631.1:p.Arg559=