Canonical Allele Identifier: CA376726406
Gene: ERCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493125G>C , CM000672.2:g.49493125G>C GRCh38
NC_000010.10:g.50701171G>C , CM000672.1:g.50701171G>C GRCh37
NC_000010.9:g.50371177G>C NCBI36
NG_009442.1:g.50977C>G , LRG_465:g.50977C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.1813C>G MANE Select ENSP00000348089.5:p.His605Asp
ENST00000681632.1:n.1891C>G
ENST00000681659.1:c.1654C>G ENSP00000505631.1:p.His552Asp
ENST00000355832.9:c.1813C>G ENSP00000348089.5:p.His605Asp
ENST00000475116.1:n.275+7413C>G
ENST00000623073.3:c.214C>G ENSP00000485650.1:p.His72Asp
ENST00000623115.3:c.-70+7413C>G ENSP00000485321.1:n.-70+7413C>G
ENST00000623318.1:c.214C>G ENSP00000485423.1:p.His72Asp
NM_000124.3:c.1813C>G NP_000115.1:p.His605Asp
NM_001346440.1:c.1813C>G NP_001333369.1:p.His605Asp
NM_000124.4:c.1813C>G MANE Select NP_000115.1:p.His605Asp
NM_001346440.2:c.1813C>G NP_001333369.1:p.His605Asp