Canonical Allele Identifier: CA408271066

Gene: NDUFAF5

Linked Data

• COSMIC: COSM722630
• MyVariant Identifiers: chr20:g.13782282G>C (hg19) ; chr20:g.13801636G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801636G>C , CM000682.2:g.13801636G>C	GRCh38
NC_000020.10:g.13782282G>C , CM000682.1:g.13782282G>C	GRCh37
NC_000020.9:g.13730282G>C	NCBI36
NG_015811.1:g.21611G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.670G>C MANE Select	ENSP00000367346.5:p.Asp224His
ENST00000378081.9:c.670G>C	ENSP00000437325.1:p.Asp224His
ENST00000378106.9:c.670G>C	ENSP00000367346.5:p.Asp224His
ENST00000463598.1:c.586G>C	ENSP00000420497.1:p.Asp196His
ENST00000464269.5:n.343G>C
ENST00000475968.5:n.547G>C
ENST00000476124.1:n.69G>C
ENST00000476536.5:n.630G>C
ENST00000477732.5:n.502+3136G>C
ENST00000479716.5:n.191G>C
ENST00000481249.5:n.547G>C
ENST00000485738.5:n.647G>C
ENST00000487478.5:n.94G>C
NM_001039375.2:c.586G>C	NP_001034464.1:p.Asp196His
NM_024120.4:c.670G>C	NP_077025.2:p.Asp224His
NR_029377.1:n.713G>C
XM_006723620.2:c.670G>C	XP_006723683.1:p.Asp224His
XM_006723622.2:c.199G>C	XP_006723685.1:p.Asp67His
XM_006723623.1:c.199G>C	XP_006723686.1:p.Asp67His
XM_006723624.1:c.199G>C	XP_006723687.1:p.Asp67His
XM_011529341.1:c.670G>C	XP_011527643.1:p.Asp224His
XM_011529342.1:c.670G>C	XP_011527644.1:p.Asp224His
XM_011529343.1:c.670G>C	XP_011527645.1:p.Asp224His
XM_011529344.1:c.301G>C	XP_011527646.1:p.Asp101His
XR_430269.2:n.690G>C
XR_937140.1:n.690G>C
NM_001352403.1:c.199G>C	NP_001339332.1:p.Asp67His
NM_001352406.1:c.109G>C	NP_001339335.1:p.Asp37His
NM_001352407.1:c.109G>C	NP_001339336.1:p.Asp37His
NM_001352408.1:c.670G>C	NP_001339337.1:p.Asp224His
NR_147978.1:n.713G>C
NR_147979.1:n.733G>C
NR_147980.1:n.609G>C
NR_147981.1:n.847G>C
NR_147982.1:n.847G>C
NR_147983.1:n.763G>C
XM_006723624.2:c.199G>C	XP_006723687.1:p.Asp67His
XM_011529342.2:c.670G>C	XP_011527644.1:p.Asp224His
XM_024451999.1:c.199G>C	XP_024307767.1:p.Asp67His
XR_001754396.1:n.629G>C
XR_430269.3:n.690G>C
XR_937140.2:n.690G>C
NM_024120.5:c.670G>C MANE Select	NP_077025.2:p.Asp224His
NM_001039375.3:c.586G>C	NP_001034464.1:p.Asp196His
NM_001352403.2:c.199G>C	NP_001339332.1:p.Asp67His
NM_001352406.2:c.109G>C	NP_001339335.1:p.Asp37His
NM_001352407.2:c.109G>C	NP_001339336.1:p.Asp37His
NR_029377.2:n.711G>C
NR_147978.2:n.711G>C
NR_147979.2:n.731G>C
NR_147980.2:n.607G>C
NR_147981.2:n.845G>C
NR_147982.2:n.845G>C
NR_147983.2:n.761G>C
NM_001352408.2:c.670G>C	NP_001339337.1:p.Asp224His