Canonical Allele Identifier: CA5495770
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 287219
dbSNP Id: rs55698015

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482760G>A , CM000672.2:g.49482760G>A GRCh38
NC_000010.10:g.50690806G>A , CM000672.1:g.50690806G>A GRCh37
NC_000010.9:g.50360812G>A NCBI36
NG_009442.1:g.61342C>T , LRG_465:g.61342C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2096C>T MANE Select ENSP00000348089.5:p.Thr699Met
ENST00000681632.1:n.2174C>T
ENST00000681659.1:c.1937C>T ENSP00000505631.1:p.Thr646Met
ENST00000355832.9:c.2096C>T ENSP00000348089.5:p.Thr699Met
ENST00000623073.3:c.*488C>T ENSP00000485650.1:n.*488C>T
ENST00000623115.3:c.206C>T ENSP00000485321.1:p.Thr69Met
NM_000124.3:c.2096C>T NP_000115.1:p.Thr699Met
NM_001346440.1:c.2096C>T NP_001333369.1:p.Thr699Met
NM_000124.4:c.2096C>T MANE Select NP_000115.1:p.Thr699Met
NM_001346440.2:c.2096C>T NP_001333369.1:p.Thr699Met