Canonical Allele Identifier: CA9767925

Gene: NDUFAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13816878T>C , CM000682.2:g.13816878T>C	GRCh38
NC_000020.10:g.13797524T>C , CM000682.1:g.13797524T>C	GRCh37
NC_000020.9:g.13745524T>C	NCBI36
NG_015811.1:g.36853T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024120.5:c.866T>C MANE Select	NP_077025.2:p.Met289Thr
ENST00000378106.10:c.866T>C MANE Select	ENSP00000367346.5:p.Met289Thr
NM_001039375.2:c.782T>C	NP_001034464.1:p.Met261Thr
NM_001039375.3:c.782T>C	NP_001034464.1:p.Met261Thr
NM_001352403.1:c.395T>C	NP_001339332.1:p.Met132Thr
NM_001352403.2:c.395T>C	NP_001339332.1:p.Met132Thr
NM_001352406.1:c.305T>C	NP_001339335.1:p.Met102Thr
NM_001352406.2:c.305T>C	NP_001339335.1:p.Met102Thr
NM_001352407.1:c.305T>C	NP_001339336.1:p.Met102Thr
NM_001352407.2:c.305T>C	NP_001339336.1:p.Met102Thr
NM_024120.4:c.866T>C	NP_077025.2:p.Met289Thr
NR_029377.1:n.1007T>C
NR_029377.2:n.1005T>C
NR_147978.1:n.965T>C
NR_147978.2:n.963T>C
NR_147979.1:n.1027T>C
NR_147979.2:n.1025T>C
NR_147980.1:n.903T>C
NR_147980.2:n.901T>C
NR_147981.1:n.1141T>C
NR_147981.2:n.1139T>C
NR_147982.1:n.1197T>C
NR_147982.2:n.1195T>C
NR_147983.1:n.1057T>C
NR_147983.2:n.1055T>C
ENST00000378081.9:c.*160T>C	ENSP00000437325.1:n.*160T>C
ENST00000378106.9:c.866T>C	ENSP00000367346.5:p.Met289Thr
ENST00000463598.1:c.782T>C	ENSP00000420497.1:p.Met261Thr
ENST00000475968.5:n.743T>C
ENST00000476200.5:n.527T>C
ENST00000479682.5:n.486T>C
ENST00000479716.5:n.303T>C
ENST00000486772.1:n.221T>C
ENST00000487478.5:n.444T>C
XM_006723622.2:c.395T>C	XP_006723685.1:p.Met132Thr
XM_006723623.1:c.395T>C	XP_006723686.1:p.Met132Thr
XM_006723624.1:c.395T>C	XP_006723687.1:p.Met132Thr
XM_006723624.2:c.395T>C	XP_006723687.1:p.Met132Thr
XM_011529341.1:c.782T>C	XP_011527643.1:p.Met261Thr
XM_011529344.1:c.497T>C	XP_011527646.1:p.Met166Thr
XM_024451999.1:c.395T>C	XP_024307767.1:p.Met132Thr
XR_001754396.1:n.923T>C
XR_430269.2:n.1040T>C
XR_430269.3:n.1040T>C
XR_937140.1:n.900T>C
XR_937140.2:n.900T>C