Canonical Allele Identifier: CA1908749579

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470815C= , CM000672.2:g.49470815C=	GRCh38
NC_000010.10:g.50678861C= , CM000672.1:g.50678861C=	GRCh37
NC_000010.9:g.50348867C=	NCBI36
NG_009442.1:g.73287G= , LRG_465:g.73287G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3145G= MANE Select	ENSP00000348089.5:p.Asp1049=
ENST00000679552.1:n.216G=
ENST00000679871.1:n.291G=
ENST00000679974.1:n.194G=
ENST00000681632.1:n.4548G=
ENST00000681659.1:c.2986G=	ENSP00000505631.1:p.Asp996=
ENST00000355832.9:c.3145G=	ENSP00000348089.5:p.Asp1049=
ENST00000623073.3:c.*1441G=	ENSP00000485650.1:n.*1441G=
ENST00000623115.3:c.1255G=	ENSP00000485321.1:p.Asp419=
ENST00000624341.3:c.977G=
NM_000124.3:c.3145G=	NP_000115.1:p.Asp1049=
XR_945953.1:n.243-750C=
NM_001346440.1:c.3145G=	NP_001333369.1:p.Asp1049=
NM_000124.4:c.3145G= MANE Select	NP_000115.1:p.Asp1049=
NM_001346440.2:c.3145G=	NP_001333369.1:p.Asp1049=