Canonical Allele Identifier: CA1908749715
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49471087C= , CM000672.2:g.49471087C= GRCh38
NC_000010.10:g.50679133C= , CM000672.1:g.50679133C= GRCh37
NC_000010.9:g.50349139C= NCBI36
NG_009442.1:g.73015G= , LRG_465:g.73015G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2958G= MANE Select ENSP00000348089.5:p.Val986=
ENST00000679552.1:n.142-198G=
ENST00000679871.1:n.104G=
ENST00000679974.1:n.120-198G=
ENST00000681632.1:n.4361G=
ENST00000681659.1:c.2799G= ENSP00000505631.1:p.Val933=
ENST00000355832.9:c.2958G= ENSP00000348089.5:p.Val986=
ENST00000623073.3:c.*1254G= ENSP00000485650.1:n.*1254G=
ENST00000623115.3:c.1068G= ENSP00000485321.1:p.Val356=
ENST00000624341.3:c.790G=
NM_000124.3:c.2958G= NP_000115.1:p.Val986=
XR_945953.1:n.243-478C=
NM_001346440.1:c.2958G= NP_001333369.1:p.Val986=
NM_000124.4:c.2958G= MANE Select NP_000115.1:p.Val986=
NM_001346440.2:c.2958G= NP_001333369.1:p.Val986=