Canonical Allele Identifier: CA10576142
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 225905
ClinVar RCV Id: RCV000211122 RCV000674902 RCV001061726
dbSNP Id: rs875989810
MyVariant Identifiers: chr10:g.50736472C>A (hg19) chr10:g.49528426C>A (hg38)
PubMed: PMID:26218421
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49528426C>A , CM000672.2:g.49528426C>A GRCh38
NC_000010.10:g.50736472C>A , CM000672.1:g.50736472C>A GRCh37
NC_000010.9:g.50406478C>A NCBI36
NG_009442.1:g.15676G>T , LRG_465:g.15676G>T
NG_033155.1:g.856G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.643G>T MANE Select ENSP00000348089.5:p.Glu215Ter
ENST00000447839.7:c.643G>T MANE Plus Clinical ENSP00000387966.2:p.Glu215Ter
ENST00000679596.1:c.*272G>T ENSP00000504862.1:n.*272G>T
ENST00000679811.1:n.726G>T
ENST00000680107.1:c.643G>T ENSP00000505909.1:p.Glu215Ter
ENST00000680233.1:n.736G>T
ENST00000681632.1:n.721G>T
ENST00000681659.1:c.643G>T ENSP00000505631.1:p.Glu215Ter
ENST00000355832.9:c.643G>T ENSP00000348089.5:p.Glu215Ter
ENST00000447839.6:c.643G>T ENSP00000387966.2:p.Glu215Ter
ENST00000479652.1:n.118G>T
ENST00000515869.1:c.643G>T ENSP00000423550.1:p.Glu215Ter
NM_000124.3:c.643G>T NP_000115.1:p.Glu215Ter
NM_001277058.1:c.643G>T NP_001263987.1:p.Glu215Ter
NM_001277059.1:c.643G>T NP_001263988.1:p.Glu215Ter
NM_001346440.1:c.643G>T NP_001333369.1:p.Glu215Ter
NM_000124.4:c.643G>T MANE Select NP_000115.1:p.Glu215Ter
NM_001277058.2:c.643G>T MANE Plus Clinical NP_001263987.1:p.Glu215Ter
NM_001277059.2:c.643G>T NP_001263988.1:p.Glu215Ter
NM_001346440.2:c.643G>T NP_001333369.1:p.Glu215Ter
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