Canonical Allele Identifier: CA1908749238

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470074T= , CM000672.2:g.49470074T=	GRCh38
NC_000010.10:g.50678120T= , CM000672.1:g.50678120T=	GRCh37
NC_000010.9:g.50348126T=	NCBI36
NG_009442.1:g.74028A= , LRG_465:g.74028A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+108A= MANE Select	ENSP00000348089.5:n.3778+108A=
ENST00000679552.1:n.849+108A=
ENST00000679871.1:n.924+108A=
ENST00000679974.1:n.827+108A=
ENST00000681632.1:n.5181+108A=
ENST00000681659.1:c.3619+108A=	ENSP00000505631.1:n.3619+108A=
ENST00000355832.9:c.3778+108A=	ENSP00000348089.5:n.3778+108A=
ENST00000465653.1:n.100+108A=
ENST00000623073.3:c.*2074+108A=	ENSP00000485650.1:n.*2074+108A=
ENST00000623115.3:c.1888+108A=	ENSP00000485321.1:n.1888+108A=
ENST00000624341.3:c.1610+108A=
NM_000124.3:c.3778+108A=	NP_000115.1:n.3778+108A=
XR_945953.1:n.243-1491T=
NM_001346440.1:c.3778+108A=	NP_001333369.1:n.3778+108A=
NM_000124.4:c.3778+108A= MANE Select	NP_000115.1:n.3778+108A=
NM_001346440.2:c.3778+108A=	NP_001333369.1:n.3778+108A=