Canonical Allele Identifier: CA1908749571

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470799T= , CM000672.2:g.49470799T=	GRCh38
NC_000010.10:g.50678845T= , CM000672.1:g.50678845T=	GRCh37
NC_000010.9:g.50348851T=	NCBI36
NG_009442.1:g.73303A= , LRG_465:g.73303A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3161A= MANE Select	ENSP00000348089.5:p.Lys1054=
ENST00000679552.1:n.232A=
ENST00000679871.1:n.307A=
ENST00000679974.1:n.210A=
ENST00000681632.1:n.4564A=
ENST00000681659.1:c.3002A=	ENSP00000505631.1:p.Lys1001=
ENST00000355832.9:c.3161A=	ENSP00000348089.5:p.Lys1054=
ENST00000623073.3:c.*1457A=	ENSP00000485650.1:n.*1457A=
ENST00000623115.3:c.1271A=	ENSP00000485321.1:p.Lys424=
ENST00000624341.3:c.993A=
NM_000124.3:c.3161A=	NP_000115.1:p.Lys1054=
XR_945953.1:n.243-766T=
NM_001346440.1:c.3161A=	NP_001333369.1:p.Lys1054=
NM_000124.4:c.3161A= MANE Select	NP_000115.1:p.Lys1054=
NM_001346440.2:c.3161A=	NP_001333369.1:p.Lys1054=