Canonical Allele Identifier: CA408270571

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782157G>C (hg19) ; chr20:g.13801511G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801511G>C , CM000682.2:g.13801511G>C	GRCh38
NC_000020.10:g.13782157G>C , CM000682.1:g.13782157G>C	GRCh37
NC_000020.9:g.13730157G>C	NCBI36
NG_015811.1:g.21486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.545G>C MANE Select	ENSP00000367346.5:p.Gly182Ala
ENST00000378081.9:c.545G>C	ENSP00000437325.1:p.Gly182Ala
ENST00000378106.9:c.545G>C	ENSP00000367346.5:p.Gly182Ala
ENST00000463598.1:c.461G>C	ENSP00000420497.1:p.Gly154Ala
ENST00000464269.5:n.218G>C
ENST00000475968.5:n.422G>C
ENST00000476536.5:n.505G>C
ENST00000477732.5:n.502+3011G>C
ENST00000479716.5:n.66G>C
ENST00000481249.5:n.422G>C
ENST00000485738.5:n.522G>C
NM_001039375.2:c.461G>C	NP_001034464.1:p.Gly154Ala
NM_024120.4:c.545G>C	NP_077025.2:p.Gly182Ala
NR_029377.1:n.588G>C
XM_006723620.2:c.545G>C	XP_006723683.1:p.Gly182Ala
XM_006723622.2:c.74G>C	XP_006723685.1:p.Gly25Ala
XM_006723623.1:c.74G>C	XP_006723686.1:p.Gly25Ala
XM_006723624.1:c.74G>C	XP_006723687.1:p.Gly25Ala
XM_011529341.1:c.545G>C	XP_011527643.1:p.Gly182Ala
XM_011529342.1:c.545G>C	XP_011527644.1:p.Gly182Ala
XM_011529343.1:c.545G>C	XP_011527645.1:p.Gly182Ala
XM_011529344.1:c.176G>C	XP_011527646.1:p.Gly59Ala
XR_430269.2:n.565G>C
XR_937140.1:n.565G>C
NM_001352403.1:c.74G>C	NP_001339332.1:p.Gly25Ala
NM_001352406.1:c.-17G>C	NP_001339335.1:n.-17G>C
NM_001352407.1:c.-17G>C	NP_001339336.1:n.-17G>C
NM_001352408.1:c.545G>C	NP_001339337.1:p.Gly182Ala
NR_147978.1:n.588G>C
NR_147979.1:n.608G>C
NR_147980.1:n.484G>C
NR_147981.1:n.722G>C
NR_147982.1:n.722G>C
NR_147983.1:n.638G>C
XM_006723624.2:c.74G>C	XP_006723687.1:p.Gly25Ala
XM_011529342.2:c.545G>C	XP_011527644.1:p.Gly182Ala
XM_024451999.1:c.74G>C	XP_024307767.1:p.Gly25Ala
XR_001754396.1:n.504G>C
XR_430269.3:n.565G>C
XR_937140.2:n.565G>C
NM_024120.5:c.545G>C MANE Select	NP_077025.2:p.Gly182Ala
NM_001039375.3:c.461G>C	NP_001034464.1:p.Gly154Ala
NM_001352403.2:c.74G>C	NP_001339332.1:p.Gly25Ala
NM_001352406.2:c.-17G>C	NP_001339335.1:n.-17G>C
NM_001352407.2:c.-17G>C	NP_001339336.1:n.-17G>C
NR_029377.2:n.586G>C
NR_147978.2:n.586G>C
NR_147979.2:n.606G>C
NR_147980.2:n.482G>C
NR_147981.2:n.720G>C
NR_147982.2:n.720G>C
NR_147983.2:n.636G>C
NM_001352408.2:c.545G>C	NP_001339337.1:p.Gly182Ala