Canonical Allele Identifier: CA1908760335
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482774C= , CM000672.2:g.49482774C= GRCh38
NC_000010.10:g.50690820C= , CM000672.1:g.50690820C= GRCh37
NC_000010.9:g.50360826C= NCBI36
NG_009442.1:g.61328G= , LRG_465:g.61328G=

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.2082G= MANE Select ENSP00000348089.5:p.Pro694=
ENST00000681632.1:n.2160G=
ENST00000681659.1:c.1923G= ENSP00000505631.1:p.Pro641=
ENST00000355832.9:c.2082G= ENSP00000348089.5:p.Pro694=
ENST00000623073.3:c.*474G= ENSP00000485650.1:n.*474G=
ENST00000623115.3:c.192G= ENSP00000485321.1:p.Pro64=
NM_000124.3:c.2082G= NP_000115.1:p.Pro694=
NM_001346440.1:c.2082G= NP_001333369.1:p.Pro694=
NM_000124.4:c.2082G= MANE Select NP_000115.1:p.Pro694=
NM_001346440.2:c.2082G= NP_001333369.1:p.Pro694=