Canonical Allele Identifier: CA741393639

Gene: NDUFAF5

Linked Data

• dbSNP Id: rs1484596287
• gnomAD v3: 20-13801796-C-T
• gnomAD v4: 20-13801796-C-T
• MyVariant Identifiers: chr20:g.13782442C>T (hg19) ; chr20:g.13801796C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801796C>T , CM000682.2:g.13801796C>T	GRCh38
NC_000020.10:g.13782442C>T , CM000682.1:g.13782442C>T	GRCh37
NC_000020.9:g.13730442C>T	NCBI36
NG_015811.1:g.21771C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.717+113C>T MANE Select	ENSP00000367346.5:n.717+113C>T
ENST00000378081.9:c.717+113C>T	ENSP00000437325.1:n.717+113C>T
ENST00000378106.9:c.717+113C>T	ENSP00000367346.5:n.717+113C>T
ENST00000463598.1:c.633+113C>T	ENSP00000420497.1:n.633+113C>T
ENST00000464269.5:n.390+113C>T
ENST00000475968.5:n.594+113C>T
ENST00000476124.1:n.117-22C>T
ENST00000476536.5:n.677+113C>T
ENST00000477732.5:n.502+3296C>T
ENST00000479716.5:n.238+113C>T
ENST00000481249.5:n.594+113C>T
ENST00000485738.5:n.694+113C>T
ENST00000487478.5:n.142-22C>T
NM_001039375.2:c.633+113C>T	NP_001034464.1:n.633+113C>T
NM_024120.4:c.717+113C>T	NP_077025.2:n.717+113C>T
NR_029377.1:n.760+113C>T
XM_006723620.2:c.718-22C>T	XP_006723683.1:n.718-22C>T
XM_006723622.2:c.246+113C>T	XP_006723685.1:n.246+113C>T
XM_006723623.1:c.246+113C>T	XP_006723686.1:n.246+113C>T
XM_006723624.1:c.246+113C>T	XP_006723687.1:n.246+113C>T
XM_011529341.1:c.717+113C>T	XP_011527643.1:n.717+113C>T
XM_011529342.1:c.717+113C>T	XP_011527644.1:n.717+113C>T
XM_011529343.1:c.717+113C>T	XP_011527645.1:n.717+113C>T
XM_011529344.1:c.348+113C>T	XP_011527646.1:n.348+113C>T
XR_430269.2:n.738-22C>T
XR_937140.1:n.737+113C>T
NM_001352403.1:c.246+113C>T	NP_001339332.1:n.246+113C>T
NM_001352406.1:c.156+113C>T	NP_001339335.1:n.156+113C>T
NM_001352407.1:c.156+113C>T	NP_001339336.1:n.156+113C>T
NM_001352408.1:c.718-22C>T	NP_001339337.1:n.718-22C>T
NR_147978.1:n.761-22C>T
NR_147979.1:n.780+113C>T
NR_147980.1:n.656+113C>T
NR_147981.1:n.894+113C>T
NR_147982.1:n.895-22C>T
NR_147983.1:n.810+113C>T
XM_006723624.2:c.246+113C>T	XP_006723687.1:n.246+113C>T
XM_011529342.2:c.717+113C>T	XP_011527644.1:n.717+113C>T
XM_024451999.1:c.246+113C>T	XP_024307767.1:n.246+113C>T
XR_001754396.1:n.676+113C>T
XR_430269.3:n.738-22C>T
XR_937140.2:n.737+113C>T
NM_024120.5:c.717+113C>T MANE Select	NP_077025.2:n.717+113C>T
NM_001039375.3:c.633+113C>T	NP_001034464.1:n.633+113C>T
NM_001352403.2:c.246+113C>T	NP_001339332.1:n.246+113C>T
NM_001352406.2:c.156+113C>T	NP_001339335.1:n.156+113C>T
NM_001352407.2:c.156+113C>T	NP_001339336.1:n.156+113C>T
NR_029377.2:n.758+113C>T
NR_147978.2:n.759-22C>T
NR_147979.2:n.778+113C>T
NR_147980.2:n.654+113C>T
NR_147981.2:n.892+113C>T
NR_147982.2:n.893-22C>T
NR_147983.2:n.808+113C>T
NM_001352408.2:c.718-22C>T	NP_001339337.1:n.718-22C>T