Canonical Allele Identifier: CA5495327
Gene: ERCC6 HGNC NCBI

Linked Data

dbSNP Id: rs144328884

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470417G>C , CM000672.2:g.49470417G>C GRCh38
NC_000010.10:g.50678463G>C , CM000672.1:g.50678463G>C GRCh37
NC_000010.9:g.50348469G>C NCBI36
NG_009442.1:g.73685C>G , LRG_465:g.73685C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3543C>G MANE Select ENSP00000348089.5:p.His1181Gln
ENST00000679552.1:n.614C>G
ENST00000679871.1:n.689C>G
ENST00000679974.1:n.592C>G
ENST00000681632.1:n.4946C>G
ENST00000681659.1:c.3384C>G ENSP00000505631.1:p.His1128Gln
ENST00000355832.9:c.3543C>G ENSP00000348089.5:p.His1181Gln
ENST00000623073.3:c.*1839C>G ENSP00000485650.1:n.*1839C>G
ENST00000623115.3:c.1653C>G ENSP00000485321.1:p.His551Gln
ENST00000624341.3:c.1375C>G
NM_000124.3:c.3543C>G NP_000115.1:p.His1181Gln
XR_945953.1:n.243-1148G>C
NM_001346440.1:c.3543C>G NP_001333369.1:p.His1181Gln
NM_000124.4:c.3543C>G MANE Select NP_000115.1:p.His1181Gln
NM_001346440.2:c.3543C>G NP_001333369.1:p.His1181Gln