Canonical Allele Identifier: CA1908749563

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470779T= , CM000672.2:g.49470779T=	GRCh38
NC_000010.10:g.50678825T= , CM000672.1:g.50678825T=	GRCh37
NC_000010.9:g.50348831T=	NCBI36
NG_009442.1:g.73323A= , LRG_465:g.73323A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3181A= MANE Select	ENSP00000348089.5:p.Ile1061=
ENST00000679552.1:n.252A=
ENST00000679871.1:n.327A=
ENST00000679974.1:n.230A=
ENST00000681632.1:n.4584A=
ENST00000681659.1:c.3022A=	ENSP00000505631.1:p.Ile1008=
ENST00000355832.9:c.3181A=	ENSP00000348089.5:p.Ile1061=
ENST00000623073.3:c.*1477A=	ENSP00000485650.1:n.*1477A=
ENST00000623115.3:c.1291A=	ENSP00000485321.1:p.Ile431=
ENST00000624341.3:c.1013A=
NM_000124.3:c.3181A=	NP_000115.1:p.Ile1061=
XR_945953.1:n.243-786T=
NM_001346440.1:c.3181A=	NP_001333369.1:p.Ile1061=
NM_000124.4:c.3181A= MANE Select	NP_000115.1:p.Ile1061=
NM_001346440.2:c.3181A=	NP_001333369.1:p.Ile1061=