Canonical Allele Identifier: CA1908745496

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461447T= , CM000672.2:g.49461447T=	GRCh38
NC_000010.10:g.50669493T= , CM000672.1:g.50669493T=	GRCh37
NC_000010.9:g.50339499T=	NCBI36
NG_009442.1:g.82655A= , LRG_465:g.82655A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3888A= MANE Select	ENSP00000348089.5:p.Ala1296=
ENST00000679552.1:n.959A=
ENST00000679871.1:n.1034A=
ENST00000679974.1:n.937A=
ENST00000681632.1:n.5291A=
ENST00000681659.1:c.3729A=	ENSP00000505631.1:p.Ala1243=
ENST00000355832.9:c.3888A=	ENSP00000348089.5:p.Ala1296=
ENST00000465653.1:n.210A=
ENST00000623073.3:c.*2184A=	ENSP00000485650.1:n.*2184A=
ENST00000623115.3:c.1998A=	ENSP00000485321.1:p.Ala666=
ENST00000624341.3:c.1720A=
NM_000124.3:c.3888A=	NP_000115.1:p.Ala1296=
XR_945953.1:n.243-10118T=
NM_001346440.1:c.3888A=	NP_001333369.1:p.Ala1296=
NM_000124.4:c.3888A= MANE Select	NP_000115.1:p.Ala1296=
NM_001346440.2:c.3888A=	NP_001333369.1:p.Ala1296=