Canonical Allele Identifier: CA1908749723

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471096T= , CM000672.2:g.49471096T=	GRCh38
NC_000010.10:g.50679142T= , CM000672.1:g.50679142T=	GRCh37
NC_000010.9:g.50349148T=	NCBI36
NG_009442.1:g.73006A= , LRG_465:g.73006A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2949A= MANE Select	ENSP00000348089.5:p.Thr983=
ENST00000679552.1:n.142-207A=
ENST00000679871.1:n.95A=
ENST00000679974.1:n.120-207A=
ENST00000681632.1:n.4352A=
ENST00000681659.1:c.2790A=	ENSP00000505631.1:p.Thr930=
ENST00000355832.9:c.2949A=	ENSP00000348089.5:p.Thr983=
ENST00000623073.3:c.*1245A=	ENSP00000485650.1:n.*1245A=
ENST00000623115.3:c.1059A=	ENSP00000485321.1:p.Thr353=
ENST00000624341.3:c.781A=
NM_000124.3:c.2949A=	NP_000115.1:p.Thr983=
XR_945953.1:n.243-469T=
NM_001346440.1:c.2949A=	NP_001333369.1:p.Thr983=
NM_000124.4:c.2949A= MANE Select	NP_000115.1:p.Thr983=
NM_001346440.2:c.2949A=	NP_001333369.1:p.Thr983=