Canonical Allele Identifier: CA408271160

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782306G>C (hg19) ; chr20:g.13801660G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801660G>C , CM000682.2:g.13801660G>C	GRCh38
NC_000020.10:g.13782306G>C , CM000682.1:g.13782306G>C	GRCh37
NC_000020.9:g.13730306G>C	NCBI36
NG_015811.1:g.21635G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.694G>C MANE Select	ENSP00000367346.5:p.Ala232Pro
ENST00000378081.9:c.694G>C	ENSP00000437325.1:p.Ala232Pro
ENST00000378106.9:c.694G>C	ENSP00000367346.5:p.Ala232Pro
ENST00000463598.1:c.610G>C	ENSP00000420497.1:p.Ala204Pro
ENST00000464269.5:n.367G>C
ENST00000475968.5:n.571G>C
ENST00000476124.1:n.93G>C
ENST00000476536.5:n.654G>C
ENST00000477732.5:n.502+3160G>C
ENST00000479716.5:n.215G>C
ENST00000481249.5:n.571G>C
ENST00000485738.5:n.671G>C
ENST00000487478.5:n.118G>C
NM_001039375.2:c.610G>C	NP_001034464.1:p.Ala204Pro
NM_024120.4:c.694G>C	NP_077025.2:p.Ala232Pro
NR_029377.1:n.737G>C
XM_006723620.2:c.694G>C	XP_006723683.1:p.Ala232Pro
XM_006723622.2:c.223G>C	XP_006723685.1:p.Ala75Pro
XM_006723623.1:c.223G>C	XP_006723686.1:p.Ala75Pro
XM_006723624.1:c.223G>C	XP_006723687.1:p.Ala75Pro
XM_011529341.1:c.694G>C	XP_011527643.1:p.Ala232Pro
XM_011529342.1:c.694G>C	XP_011527644.1:p.Ala232Pro
XM_011529343.1:c.694G>C	XP_011527645.1:p.Ala232Pro
XM_011529344.1:c.325G>C	XP_011527646.1:p.Ala109Pro
XR_430269.2:n.714G>C
XR_937140.1:n.714G>C
NM_001352403.1:c.223G>C	NP_001339332.1:p.Ala75Pro
NM_001352406.1:c.133G>C	NP_001339335.1:p.Ala45Pro
NM_001352407.1:c.133G>C	NP_001339336.1:p.Ala45Pro
NM_001352408.1:c.694G>C	NP_001339337.1:p.Ala232Pro
NR_147978.1:n.737G>C
NR_147979.1:n.757G>C
NR_147980.1:n.633G>C
NR_147981.1:n.871G>C
NR_147982.1:n.871G>C
NR_147983.1:n.787G>C
XM_006723624.2:c.223G>C	XP_006723687.1:p.Ala75Pro
XM_011529342.2:c.694G>C	XP_011527644.1:p.Ala232Pro
XM_024451999.1:c.223G>C	XP_024307767.1:p.Ala75Pro
XR_001754396.1:n.653G>C
XR_430269.3:n.714G>C
XR_937140.2:n.714G>C
NM_024120.5:c.694G>C MANE Select	NP_077025.2:p.Ala232Pro
NM_001039375.3:c.610G>C	NP_001034464.1:p.Ala204Pro
NM_001352403.2:c.223G>C	NP_001339332.1:p.Ala75Pro
NM_001352406.2:c.133G>C	NP_001339335.1:p.Ala45Pro
NM_001352407.2:c.133G>C	NP_001339336.1:p.Ala45Pro
NR_029377.2:n.735G>C
NR_147978.2:n.735G>C
NR_147979.2:n.755G>C
NR_147980.2:n.631G>C
NR_147981.2:n.869G>C
NR_147982.2:n.869G>C
NR_147983.2:n.785G>C
NM_001352408.2:c.694G>C	NP_001339337.1:p.Ala232Pro