Canonical Allele Identifier: CA3187531

Gene: NDUFS6

Linked Data

• ClinVar Variation Id: 516385
• ClinVar RCV Id: RCV000613150 ; RCV001456894
• dbSNP Id: rs147046972
• ExAC: 5:1801582 G / A
• gnomAD v2: 5-1801582-G-A
• gnomAD v3: 5-1801468-G-A
• gnomAD v4: 5-1801468-G-A
• MyVariant Identifiers: chr5:g.1801582G>A (hg19) ; chr5:g.1801468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1801468G>A , CM000667.2:g.1801468G>A	GRCh38
NC_000005.9:g.1801582G>A , CM000667.1:g.1801582G>A	GRCh37
NC_000005.8:g.1854582G>A	NCBI36
NG_013354.1:g.5087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274137.10:c.51G>A MANE Select	ENSP00000274137.6:p.Ala17=
ENST00000274137.9:c.51G>A	ENSP00000274137.5:p.Ala17=
ENST00000469176.1:c.51G>A	ENSP00000422557.1:p.Ala17=
ENST00000510329.1:n.48G>A
NM_004553.4:c.51G>A	NP_004544.1:p.Ala17=
NM_004553.6:c.51G>A MANE Select	NP_004544.1:p.Ala17=