Canonical Allele Identifier: CA3187621
Gene: NDUFS6 HGNC NCBI

Linked Data

ClinVar Variation Id: 353192
ClinVar RCV Id: RCV001271674
dbSNP Id: rs140887831
ExAC: 5:1814464 C / T
gnomAD v2: 5-1814464-C-T
gnomAD v3: 5-1814350-C-T
gnomAD v4: 5-1814350-C-T
MyVariant Identifiers: chr5:g.1814464C>T (hg19) chr5:g.1814350C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1814350C>T , CM000667.2:g.1814350C>T GRCh38
NC_000005.9:g.1814464C>T , CM000667.1:g.1814464C>T GRCh37
NC_000005.8:g.1867464C>T NCBI36
NG_013354.1:g.17969C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274137.10:c.198C>T MANE Select ENSP00000274137.6:p.Asn66=
ENST00000274137.9:c.198C>T ENSP00000274137.5:p.Asn66=
ENST00000469176.1:c.198C>T ENSP00000422557.1:p.Asn66=
NM_004553.4:c.198C>T NP_004544.1:p.Asn66=
NM_004553.6:c.198C>T MANE Select NP_004544.1:p.Asn66=
Search 100 bp 5'
Search 100 bp 3'