Canonical Allele Identifier: CA1908745295
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49460999T= , CM000672.2:g.49460999T= GRCh38
NC_000010.10:g.50669045T= , CM000672.1:g.50669045T= GRCh37
NC_000010.9:g.50339051T= NCBI36
NG_009442.1:g.83103A= , LRG_465:g.83103A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3983+353A= MANE Select ENSP00000348089.5:n.3983+353A=
ENST00000679552.1:n.1054+353A=
ENST00000679871.1:n.1129+353A=
ENST00000679974.1:n.1032+353A=
ENST00000681632.1:n.5386+353A=
ENST00000681659.1:c.3824+353A= ENSP00000505631.1:n.3824+353A=
ENST00000355832.9:c.3983+353A= ENSP00000348089.5:n.3983+353A=
ENST00000465653.1:n.305+353A=
ENST00000623073.3:c.*2279+353A= ENSP00000485650.1:n.*2279+353A=
ENST00000623115.3:c.2093+353A= ENSP00000485321.1:n.2093+353A=
ENST00000624341.3:c.1815+353A=
NM_000124.3:c.3983+353A= NP_000115.1:n.3983+353A=
XR_945953.1:n.243-10566T=
NM_001346440.1:c.3983+353A= NP_001333369.1:n.3983+353A=
NM_000124.4:c.3983+353A= MANE Select NP_000115.1:n.3983+353A=
NM_001346440.2:c.3983+353A= NP_001333369.1:n.3983+353A=