Canonical Allele Identifier: CA1908745487

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461431G= , CM000672.2:g.49461431G=	GRCh38
NC_000010.10:g.50669477G= , CM000672.1:g.50669477G=	GRCh37
NC_000010.9:g.50339483G=	NCBI36
NG_009442.1:g.82671C= , LRG_465:g.82671C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.3904C= MANE Select	NP_000115.1:p.Gln1302=
ENST00000355832.10:c.3904C= MANE Select	ENSP00000348089.5:p.Gln1302=
NM_000124.3:c.3904C=	NP_000115.1:p.Gln1302=
NM_001346440.1:c.3904C=	NP_001333369.1:p.Gln1302=
NM_001346440.2:c.3904C=	NP_001333369.1:p.Gln1302=
ENST00000355832.9:c.3904C=	ENSP00000348089.5:p.Gln1302=
ENST00000465653.1:n.226C=
ENST00000623073.3:c.*2200C=	ENSP00000485650.1:n.*2200C=
ENST00000623115.3:c.2014C=	ENSP00000485321.1:p.Gln672=
ENST00000624341.3:c.1736C=
ENST00000679552.1:n.975C=
ENST00000679871.1:n.1050C=
ENST00000679974.1:n.953C=
ENST00000681632.1:n.5307C=
ENST00000681659.1:c.3745C=	ENSP00000505631.1:p.Gln1249=
XR_945953.1:n.243-10134G=