Canonical Allele Identifier: CA117913
Gene: NDUFS6 HGNC NCBI

Linked Data

ClinVar Variation Id: 6018
ClinVar RCV Id: RCV003555940
dbSNP Id: rs267606913
ExAC: 5:1815999 G / A
gnomAD v2: 5-1815999-G-A
gnomAD v4: 5-1815885-G-A
MyVariant Identifiers: chr5:g.1815999G>A (hg19) chr5:g.1815885G>A (hg38)
PubMed: PMID:19259137
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1815885G>A , CM000667.2:g.1815885G>A GRCh38
NC_000005.9:g.1815999G>A , CM000667.1:g.1815999G>A GRCh37
NC_000005.8:g.1868999G>A NCBI36
NG_013354.1:g.19504G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274137.10:c.344G>A MANE Select ENSP00000274137.6:p.Cys115Tyr
ENST00000274137.9:c.344G>A ENSP00000274137.5:p.Cys115Tyr
NM_004553.4:c.344G>A NP_004544.1:p.Cys115Tyr
NM_004553.6:c.344G>A MANE Select NP_004544.1:p.Cys115Tyr
Search 100 bp 5'
Search 100 bp 3'