Canonical Allele Identifier: CA9767802

Gene: NDUFAF5

Linked Data

• dbSNP Id: rs754885002
• ExAC: 20:13782138 T / C
• gnomAD v4: 20-13801492-T-C
• MyVariant Identifiers: chr20:g.13782138T>C (hg19) ; chr20:g.13801492T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801492T>C , CM000682.2:g.13801492T>C	GRCh38
NC_000020.10:g.13782138T>C , CM000682.1:g.13782138T>C	GRCh37
NC_000020.9:g.13730138T>C	NCBI36
NG_015811.1:g.21467T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.526T>C MANE Select	ENSP00000367346.5:p.Tyr176His
ENST00000378081.9:c.526T>C	ENSP00000437325.1:p.Tyr176His
ENST00000378106.9:c.526T>C	ENSP00000367346.5:p.Tyr176His
ENST00000463598.1:c.442T>C	ENSP00000420497.1:p.Tyr148His
ENST00000464269.5:n.199T>C
ENST00000475968.5:n.403T>C
ENST00000476536.5:n.486T>C
ENST00000477732.5:n.502+2992T>C
ENST00000479716.5:n.47T>C
ENST00000481249.5:n.403T>C
ENST00000485738.5:n.519-16T>C
NM_001039375.2:c.442T>C	NP_001034464.1:p.Tyr148His
NM_024120.4:c.526T>C	NP_077025.2:p.Tyr176His
NR_029377.1:n.569T>C
XM_006723620.2:c.526T>C	XP_006723683.1:p.Tyr176His
XM_006723622.2:c.55T>C	XP_006723685.1:p.Tyr19His
XM_006723623.1:c.55T>C	XP_006723686.1:p.Tyr19His
XM_006723624.1:c.55T>C	XP_006723687.1:p.Tyr19His
XM_011529341.1:c.526T>C	XP_011527643.1:p.Tyr176His
XM_011529342.1:c.526T>C	XP_011527644.1:p.Tyr176His
XM_011529343.1:c.526T>C	XP_011527645.1:p.Tyr176His
XM_011529344.1:c.157T>C	XP_011527646.1:p.Tyr53His
XR_430269.2:n.546T>C
XR_937140.1:n.546T>C
NM_001352403.1:c.55T>C	NP_001339332.1:p.Tyr19His
NM_001352406.1:c.-36T>C	NP_001339335.1:n.-36T>C
NM_001352407.1:c.-36T>C	NP_001339336.1:n.-36T>C
NM_001352408.1:c.526T>C	NP_001339337.1:p.Tyr176His
NR_147978.1:n.569T>C
NR_147979.1:n.589T>C
NR_147980.1:n.465T>C
NR_147981.1:n.703T>C
NR_147982.1:n.703T>C
NR_147983.1:n.619T>C
XM_006723624.2:c.55T>C	XP_006723687.1:p.Tyr19His
XM_011529342.2:c.526T>C	XP_011527644.1:p.Tyr176His
XM_024451999.1:c.55T>C	XP_024307767.1:p.Tyr19His
XR_001754396.1:n.485T>C
XR_430269.3:n.546T>C
XR_937140.2:n.546T>C
NM_024120.5:c.526T>C MANE Select	NP_077025.2:p.Tyr176His
NM_001039375.3:c.442T>C	NP_001034464.1:p.Tyr148His
NM_001352403.2:c.55T>C	NP_001339332.1:p.Tyr19His
NM_001352406.2:c.-36T>C	NP_001339335.1:n.-36T>C
NM_001352407.2:c.-36T>C	NP_001339336.1:n.-36T>C
NR_029377.2:n.567T>C
NR_147978.2:n.567T>C
NR_147979.2:n.587T>C
NR_147980.2:n.463T>C
NR_147981.2:n.701T>C
NR_147982.2:n.701T>C
NR_147983.2:n.617T>C
NM_001352408.2:c.526T>C	NP_001339337.1:p.Tyr176His