Canonical Allele Identifier: CA1908749250

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470106A= , CM000672.2:g.49470106A=	GRCh38
NC_000010.10:g.50678152A= , CM000672.1:g.50678152A=	GRCh37
NC_000010.9:g.50348158A=	NCBI36
NG_009442.1:g.73996T= , LRG_465:g.73996T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+76T= MANE Select	ENSP00000348089.5:n.3778+76T=
ENST00000679552.1:n.849+76T=
ENST00000679871.1:n.924+76T=
ENST00000679974.1:n.827+76T=
ENST00000681632.1:n.5181+76T=
ENST00000681659.1:c.3619+76T=	ENSP00000505631.1:n.3619+76T=
ENST00000355832.9:c.3778+76T=	ENSP00000348089.5:n.3778+76T=
ENST00000465653.1:n.100+76T=
ENST00000623073.3:c.*2074+76T=	ENSP00000485650.1:n.*2074+76T=
ENST00000623115.3:c.1888+76T=	ENSP00000485321.1:n.1888+76T=
ENST00000624341.3:c.1610+76T=
NM_000124.3:c.3778+76T=	NP_000115.1:n.3778+76T=
XR_945953.1:n.243-1459A=
NM_001346440.1:c.3778+76T=	NP_001333369.1:n.3778+76T=
NM_000124.4:c.3778+76T= MANE Select	NP_000115.1:n.3778+76T=
NM_001346440.2:c.3778+76T=	NP_001333369.1:n.3778+76T=