Canonical Allele Identifier: CA3187554
Gene: NDUFS6 HGNC NCBI

Linked Data

ClinVar Variation Id: 382789
ClinVar RCV Id: RCV000677074
dbSNP Id: rs140619622
ExAC: 5:1801627 C / A
gnomAD v2: 5-1801627-C-A
gnomAD v3: 5-1801513-C-A
gnomAD v4: 5-1801513-C-A
MyVariant Identifiers: chr5:g.1801627C>A (hg19) chr5:g.1801513C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1801513C>A , CM000667.2:g.1801513C>A GRCh38
NC_000005.9:g.1801627C>A , CM000667.1:g.1801627C>A GRCh37
NC_000005.8:g.1854627C>A NCBI36
NG_013354.1:g.5132C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274137.10:c.96C>A MANE Select ENSP00000274137.6:p.Val32=
ENST00000274137.9:c.96C>A ENSP00000274137.5:p.Val32=
ENST00000469176.1:c.96C>A ENSP00000422557.1:p.Val32=
ENST00000510329.1:n.93C>A
NM_004553.4:c.96C>A NP_004544.1:p.Val32=
NM_004553.6:c.96C>A MANE Select NP_004544.1:p.Val32=
Search 100 bp 5'
Search 100 bp 3'