Canonical Allele Identifier: CA1908749424

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470470G= , CM000672.2:g.49470470G=	GRCh38
NC_000010.10:g.50678516G= , CM000672.1:g.50678516G=	GRCh37
NC_000010.9:g.50348522G=	NCBI36
NG_009442.1:g.73632C= , LRG_465:g.73632C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3490C= MANE Select	ENSP00000348089.5:p.Gln1164=
ENST00000679552.1:n.561C=
ENST00000679871.1:n.636C=
ENST00000679974.1:n.539C=
ENST00000681632.1:n.4893C=
ENST00000681659.1:c.3331C=	ENSP00000505631.1:p.Gln1111=
ENST00000355832.9:c.3490C=	ENSP00000348089.5:p.Gln1164=
ENST00000623073.3:c.*1786C=	ENSP00000485650.1:n.*1786C=
ENST00000623115.3:c.1600C=	ENSP00000485321.1:p.Gln534=
ENST00000624341.3:c.1322C=
NM_000124.3:c.3490C=	NP_000115.1:p.Gln1164=
XR_945953.1:n.243-1095G=
NM_001346440.1:c.3490C=	NP_001333369.1:p.Gln1164=
NM_000124.4:c.3490C= MANE Select	NP_000115.1:p.Gln1164=
NM_001346440.2:c.3490C=	NP_001333369.1:p.Gln1164=