Canonical Allele Identifier: CA1908745535

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461535T= , CM000672.2:g.49461535T=	GRCh38
NC_000010.10:g.50669581T= , CM000672.1:g.50669581T=	GRCh37
NC_000010.9:g.50339587T=	NCBI36
NG_009442.1:g.82567A= , LRG_465:g.82567A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3800A= MANE Select	ENSP00000348089.5:p.Lys1267=
ENST00000679552.1:n.871A=
ENST00000679871.1:n.946A=
ENST00000679974.1:n.849A=
ENST00000681632.1:n.5203A=
ENST00000681659.1:c.3641A=	ENSP00000505631.1:p.Lys1214=
ENST00000355832.9:c.3800A=	ENSP00000348089.5:p.Lys1267=
ENST00000465653.1:n.122A=
ENST00000623073.3:c.*2096A=	ENSP00000485650.1:n.*2096A=
ENST00000623115.3:c.1910A=	ENSP00000485321.1:p.Lys637=
ENST00000624341.3:c.1632A=
NM_000124.3:c.3800A=	NP_000115.1:p.Lys1267=
XR_945953.1:n.243-10030T=
NM_001346440.1:c.3800A=	NP_001333369.1:p.Lys1267=
NM_000124.4:c.3800A= MANE Select	NP_000115.1:p.Lys1267=
NM_001346440.2:c.3800A=	NP_001333369.1:p.Lys1267=