Canonical Allele Identifier: CA1908745307

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461034G= , CM000672.2:g.49461034G=	GRCh38
NC_000010.10:g.50669080G= , CM000672.1:g.50669080G=	GRCh37
NC_000010.9:g.50339086G=	NCBI36
NG_009442.1:g.83068C= , LRG_465:g.83068C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3983+318C= MANE Select	ENSP00000348089.5:n.3983+318C=
ENST00000679552.1:n.1054+318C=
ENST00000679871.1:n.1129+318C=
ENST00000679974.1:n.1032+318C=
ENST00000681632.1:n.5386+318C=
ENST00000681659.1:c.3824+318C=	ENSP00000505631.1:n.3824+318C=
ENST00000355832.9:c.3983+318C=	ENSP00000348089.5:n.3983+318C=
ENST00000465653.1:n.305+318C=
ENST00000623073.3:c.*2279+318C=	ENSP00000485650.1:n.*2279+318C=
ENST00000623115.3:c.2093+318C=	ENSP00000485321.1:n.2093+318C=
ENST00000624341.3:c.1815+318C=
NM_000124.3:c.3983+318C=	NP_000115.1:n.3983+318C=
XR_945953.1:n.243-10531G=
NM_001346440.1:c.3983+318C=	NP_001333369.1:n.3983+318C=
NM_000124.4:c.3983+318C= MANE Select	NP_000115.1:n.3983+318C=
NM_001346440.2:c.3983+318C=	NP_001333369.1:n.3983+318C=