Canonical Allele Identifier: CA1908749705

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471061A= , CM000672.2:g.49471061A=	GRCh38
NC_000010.10:g.50679107A= , CM000672.1:g.50679107A=	GRCh37
NC_000010.9:g.50349113A=	NCBI36
NG_009442.1:g.73041T= , LRG_465:g.73041T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2984T= MANE Select	ENSP00000348089.5:p.Phe995=
ENST00000679552.1:n.142-172T=
ENST00000679871.1:n.130T=
ENST00000679974.1:n.120-172T=
ENST00000681632.1:n.4387T=
ENST00000681659.1:c.2825T=	ENSP00000505631.1:p.Phe942=
ENST00000355832.9:c.2984T=	ENSP00000348089.5:p.Phe995=
ENST00000623073.3:c.*1280T=	ENSP00000485650.1:n.*1280T=
ENST00000623115.3:c.1094T=	ENSP00000485321.1:p.Phe365=
ENST00000624341.3:c.816T=
NM_000124.3:c.2984T=	NP_000115.1:p.Phe995=
XR_945953.1:n.243-504A=
NM_001346440.1:c.2984T=	NP_001333369.1:p.Phe995=
NM_000124.4:c.2984T= MANE Select	NP_000115.1:p.Phe995=
NM_001346440.2:c.2984T=	NP_001333369.1:p.Phe995=