Canonical Allele Identifier: CA376724303
Gene: ERCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482770T>G , CM000672.2:g.49482770T>G GRCh38
NC_000010.10:g.50690816T>G , CM000672.1:g.50690816T>G GRCh37
NC_000010.9:g.50360822T>G NCBI36
NG_009442.1:g.61332A>C , LRG_465:g.61332A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2086A>C MANE Select ENSP00000348089.5:p.Lys696Gln
ENST00000681632.1:n.2164A>C
ENST00000681659.1:c.1927A>C ENSP00000505631.1:p.Lys643Gln
ENST00000355832.9:c.2086A>C ENSP00000348089.5:p.Lys696Gln
ENST00000623073.3:c.*478A>C ENSP00000485650.1:n.*478A>C
ENST00000623115.3:c.196A>C ENSP00000485321.1:p.Lys66Gln
NM_000124.3:c.2086A>C NP_000115.1:p.Lys696Gln
NM_001346440.1:c.2086A>C NP_001333369.1:p.Lys696Gln
NM_000124.4:c.2086A>C MANE Select NP_000115.1:p.Lys696Gln
NM_001346440.2:c.2086A>C NP_001333369.1:p.Lys696Gln