Canonical Allele Identifier: CA408270742

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782196A>T (hg19) ; chr20:g.13801550A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801550A>T , CM000682.2:g.13801550A>T	GRCh38
NC_000020.10:g.13782196A>T , CM000682.1:g.13782196A>T	GRCh37
NC_000020.9:g.13730196A>T	NCBI36
NG_015811.1:g.21525A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.584A>T MANE Select	ENSP00000367346.5:p.Tyr195Phe
ENST00000378081.9:c.584A>T	ENSP00000437325.1:p.Tyr195Phe
ENST00000378106.9:c.584A>T	ENSP00000367346.5:p.Tyr195Phe
ENST00000463598.1:c.500A>T	ENSP00000420497.1:p.Tyr167Phe
ENST00000464269.5:n.257A>T
ENST00000475968.5:n.461A>T
ENST00000476536.5:n.544A>T
ENST00000477732.5:n.502+3050A>T
ENST00000479716.5:n.105A>T
ENST00000481249.5:n.461A>T
ENST00000485738.5:n.561A>T
ENST00000487478.5:n.8A>T
NM_001039375.2:c.500A>T	NP_001034464.1:p.Tyr167Phe
NM_024120.4:c.584A>T	NP_077025.2:p.Tyr195Phe
NR_029377.1:n.627A>T
XM_006723620.2:c.584A>T	XP_006723683.1:p.Tyr195Phe
XM_006723622.2:c.113A>T	XP_006723685.1:p.Tyr38Phe
XM_006723623.1:c.113A>T	XP_006723686.1:p.Tyr38Phe
XM_006723624.1:c.113A>T	XP_006723687.1:p.Tyr38Phe
XM_011529341.1:c.584A>T	XP_011527643.1:p.Tyr195Phe
XM_011529342.1:c.584A>T	XP_011527644.1:p.Tyr195Phe
XM_011529343.1:c.584A>T	XP_011527645.1:p.Tyr195Phe
XM_011529344.1:c.215A>T	XP_011527646.1:p.Tyr72Phe
XR_430269.2:n.604A>T
XR_937140.1:n.604A>T
NM_001352403.1:c.113A>T	NP_001339332.1:p.Tyr38Phe
NM_001352406.1:c.23A>T	NP_001339335.1:p.Tyr8Phe
NM_001352407.1:c.23A>T	NP_001339336.1:p.Tyr8Phe
NM_001352408.1:c.584A>T	NP_001339337.1:p.Tyr195Phe
NR_147978.1:n.627A>T
NR_147979.1:n.647A>T
NR_147980.1:n.523A>T
NR_147981.1:n.761A>T
NR_147982.1:n.761A>T
NR_147983.1:n.677A>T
XM_006723624.2:c.113A>T	XP_006723687.1:p.Tyr38Phe
XM_011529342.2:c.584A>T	XP_011527644.1:p.Tyr195Phe
XM_024451999.1:c.113A>T	XP_024307767.1:p.Tyr38Phe
XR_001754396.1:n.543A>T
XR_430269.3:n.604A>T
XR_937140.2:n.604A>T
NM_024120.5:c.584A>T MANE Select	NP_077025.2:p.Tyr195Phe
NM_001039375.3:c.500A>T	NP_001034464.1:p.Tyr167Phe
NM_001352403.2:c.113A>T	NP_001339332.1:p.Tyr38Phe
NM_001352406.2:c.23A>T	NP_001339335.1:p.Tyr8Phe
NM_001352407.2:c.23A>T	NP_001339336.1:p.Tyr8Phe
NR_029377.2:n.625A>T
NR_147978.2:n.625A>T
NR_147979.2:n.645A>T
NR_147980.2:n.521A>T
NR_147981.2:n.759A>T
NR_147982.2:n.759A>T
NR_147983.2:n.675A>T
NM_001352408.2:c.584A>T	NP_001339337.1:p.Tyr195Phe