Canonical Allele Identifier: CA5495885
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2060388
ClinVar RCV Id: RCV002938774
dbSNP Id: rs751786870

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493233T>C , CM000672.2:g.49493233T>C GRCh38
NC_000010.10:g.50701279T>C , CM000672.1:g.50701279T>C GRCh37
NC_000010.9:g.50371285T>C NCBI36
NG_009442.1:g.50869A>G , LRG_465:g.50869A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1705A>G MANE Select ENSP00000348089.5:p.Thr569Ala
ENST00000681632.1:n.1783A>G
ENST00000681659.1:c.1546A>G ENSP00000505631.1:p.Thr516Ala
ENST00000355832.9:c.1705A>G ENSP00000348089.5:p.Thr569Ala
ENST00000475116.1:n.275+7305A>G
ENST00000623073.3:c.106A>G ENSP00000485650.1:p.Thr36Ala
ENST00000623115.3:c.-70+7305A>G ENSP00000485321.1:n.-70+7305A>G
ENST00000623318.1:c.106A>G ENSP00000485423.1:p.Thr36Ala
NM_000124.3:c.1705A>G NP_000115.1:p.Thr569Ala
NM_001346440.1:c.1705A>G NP_001333369.1:p.Thr569Ala
NM_000124.4:c.1705A>G MANE Select NP_000115.1:p.Thr569Ala
NM_001346440.2:c.1705A>G NP_001333369.1:p.Thr569Ala