Canonical Allele Identifier: CA1908749724

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471106T= , CM000672.2:g.49471106T=	GRCh38
NC_000010.10:g.50679152T= , CM000672.1:g.50679152T=	GRCh37
NC_000010.9:g.50349158T=	NCBI36
NG_009442.1:g.72996A= , LRG_465:g.72996A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2939A= MANE Select	ENSP00000348089.5:p.Gln980=
ENST00000679552.1:n.142-217A=
ENST00000679871.1:n.85A=
ENST00000679974.1:n.120-217A=
ENST00000681632.1:n.4342A=
ENST00000681659.1:c.2780A=	ENSP00000505631.1:p.Gln927=
ENST00000355832.9:c.2939A=	ENSP00000348089.5:p.Gln980=
ENST00000623073.3:c.*1235A=	ENSP00000485650.1:n.*1235A=
ENST00000623115.3:c.1049A=	ENSP00000485321.1:p.Gln350=
ENST00000624341.3:c.771A=
NM_000124.3:c.2939A=	NP_000115.1:p.Gln980=
XR_945953.1:n.243-459T=
NM_001346440.1:c.2939A=	NP_001333369.1:p.Gln980=
NM_000124.4:c.2939A= MANE Select	NP_000115.1:p.Gln980=
NM_001346440.2:c.2939A=	NP_001333369.1:p.Gln980=