Canonical Allele Identifier: CA1908760309
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482762G= , CM000672.2:g.49482762G= GRCh38
NC_000010.10:g.50690808G= , CM000672.1:g.50690808G= GRCh37
NC_000010.9:g.50360814G= NCBI36
NG_009442.1:g.61340C= , LRG_465:g.61340C=

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.2094C= MANE Select ENSP00000348089.5:p.Gly698=
ENST00000681632.1:n.2172C=
ENST00000681659.1:c.1935C= ENSP00000505631.1:p.Gly645=
ENST00000355832.9:c.2094C= ENSP00000348089.5:p.Gly698=
ENST00000623073.3:c.*486C= ENSP00000485650.1:n.*486C=
ENST00000623115.3:c.204C= ENSP00000485321.1:p.Gly68=
NM_000124.3:c.2094C= NP_000115.1:p.Gly698=
NM_001346440.1:c.2094C= NP_001333369.1:p.Gly698=
NM_000124.4:c.2094C= MANE Select NP_000115.1:p.Gly698=
NM_001346440.2:c.2094C= NP_001333369.1:p.Gly698=