Canonical Allele Identifier: CA1908760274

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482756C= , CM000672.2:g.49482756C=	GRCh38
NC_000010.10:g.50690802C= , CM000672.1:g.50690802C=	GRCh37
NC_000010.9:g.50360808C=	NCBI36
NG_009442.1:g.61346G= , LRG_465:g.61346G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2100G= MANE Select	ENSP00000348089.5:p.Leu700=
ENST00000681632.1:n.2178G=
ENST00000681659.1:c.1941G=	ENSP00000505631.1:p.Leu647=
ENST00000355832.9:c.2100G=	ENSP00000348089.5:p.Leu700=
ENST00000623073.3:c.*492G=	ENSP00000485650.1:n.*492G=
ENST00000623115.3:c.210G=	ENSP00000485321.1:p.Leu70=
NM_000124.3:c.2100G=	NP_000115.1:p.Leu700=
NM_001346440.1:c.2100G=	NP_001333369.1:p.Leu700=
NM_000124.4:c.2100G= MANE Select	NP_000115.1:p.Leu700=
NM_001346440.2:c.2100G=	NP_001333369.1:p.Leu700=