Canonical Allele Identifier: CA1908749203

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470003A= , CM000672.2:g.49470003A=	GRCh38
NC_000010.10:g.50678049A= , CM000672.1:g.50678049A=	GRCh37
NC_000010.9:g.50348055A=	NCBI36
NG_009442.1:g.74099T= , LRG_465:g.74099T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+179T= MANE Select	ENSP00000348089.5:n.3778+179T=
ENST00000679552.1:n.849+179T=
ENST00000679871.1:n.924+179T=
ENST00000679974.1:n.827+179T=
ENST00000681632.1:n.5181+179T=
ENST00000681659.1:c.3619+179T=	ENSP00000505631.1:n.3619+179T=
ENST00000355832.9:c.3778+179T=	ENSP00000348089.5:n.3778+179T=
ENST00000465653.1:n.100+179T=
ENST00000623073.3:c.*2074+179T=	ENSP00000485650.1:n.*2074+179T=
ENST00000623115.3:c.1888+179T=	ENSP00000485321.1:n.1888+179T=
ENST00000624341.3:c.1610+179T=
NM_000124.3:c.3778+179T=	NP_000115.1:n.3778+179T=
XR_945953.1:n.243-1562A=
NM_001346440.1:c.3778+179T=	NP_001333369.1:n.3778+179T=
NM_000124.4:c.3778+179T= MANE Select	NP_000115.1:n.3778+179T=
NM_001346440.2:c.3778+179T=	NP_001333369.1:n.3778+179T=