Canonical Allele Identifier: CA1908749726
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49471120T= , CM000672.2:g.49471120T= GRCh38
NC_000010.10:g.50679166T= , CM000672.1:g.50679166T= GRCh37
NC_000010.9:g.50349172T= NCBI36
NG_009442.1:g.72982A= , LRG_465:g.72982A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2925A= MANE Select ENSP00000348089.5:p.Arg975=
ENST00000679552.1:n.142-231A=
ENST00000679871.1:n.71A=
ENST00000679974.1:n.120-231A=
ENST00000681632.1:n.4328A=
ENST00000681659.1:c.2766A= ENSP00000505631.1:p.Arg922=
ENST00000355832.9:c.2925A= ENSP00000348089.5:p.Arg975=
ENST00000623073.3:c.*1221A= ENSP00000485650.1:n.*1221A=
ENST00000623115.3:c.1035A= ENSP00000485321.1:p.Arg345=
ENST00000624341.3:c.757A=
NM_000124.3:c.2925A= NP_000115.1:p.Arg975=
XR_945953.1:n.243-445T=
NM_001346440.1:c.2925A= NP_001333369.1:p.Arg975=
NM_000124.4:c.2925A= MANE Select NP_000115.1:p.Arg975=
NM_001346440.2:c.2925A= NP_001333369.1:p.Arg975=