Canonical Allele Identifier: CA1908760064
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482686C= , CM000672.2:g.49482686C= GRCh38
NC_000010.10:g.50690732C= , CM000672.1:g.50690732C= GRCh37
NC_000010.9:g.50360738C= NCBI36
NG_009442.1:g.61416G= , LRG_465:g.61416G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2169+1G= MANE Select ENSP00000348089.5:n.2169+1G=
ENST00000681632.1:n.2247+1G=
ENST00000681659.1:c.2010+1G= ENSP00000505631.1:n.2010+1G=
ENST00000355832.9:c.2169+1G= ENSP00000348089.5:n.2169+1G=
ENST00000623073.3:c.*561+1G= ENSP00000485650.1:n.*561+1G=
ENST00000623115.3:c.279+1G= ENSP00000485321.1:n.279+1G=
NM_000124.3:c.2169+1G= NP_000115.1:n.2169+1G=
NM_001346440.1:c.2169+1G= NP_001333369.1:n.2169+1G=
NM_000124.4:c.2169+1G= MANE Select NP_000115.1:n.2169+1G=
NM_001346440.2:c.2169+1G= NP_001333369.1:n.2169+1G=