Canonical Allele Identifier: CA509676308

Gene: NDUFAF5

Linked Data

• MyVariant Identifiers: chr20:g.13782320T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801674T>C , CM000682.2:g.13801674T>C	GRCh38
NC_000020.10:g.13782320T>C , CM000682.1:g.13782320T>C	GRCh37
NC_000020.9:g.13730320T>C	NCBI36
NG_015811.1:g.21649T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.708T>C MANE Select	ENSP00000367346.5:p.Thr236=
ENST00000378081.9:c.708T>C	ENSP00000437325.1:p.Thr236=
ENST00000378106.9:c.708T>C	ENSP00000367346.5:p.Thr236=
ENST00000463598.1:c.624T>C	ENSP00000420497.1:p.Thr208=
ENST00000464269.5:n.381T>C
ENST00000475968.5:n.585T>C
ENST00000476124.1:n.107T>C
ENST00000476536.5:n.668T>C
ENST00000477732.5:n.502+3174T>C
ENST00000479716.5:n.229T>C
ENST00000481249.5:n.585T>C
ENST00000485738.5:n.685T>C
ENST00000487478.5:n.132T>C
NM_001039375.2:c.624T>C	NP_001034464.1:p.Thr208=
NM_024120.4:c.708T>C	NP_077025.2:p.Thr236=
NR_029377.1:n.751T>C
XM_006723620.2:c.708T>C	XP_006723683.1:p.Thr236=
XM_006723622.2:c.237T>C	XP_006723685.1:p.Thr79=
XM_006723623.1:c.237T>C	XP_006723686.1:p.Thr79=
XM_006723624.1:c.237T>C	XP_006723687.1:p.Thr79=
XM_011529341.1:c.708T>C	XP_011527643.1:p.Thr236=
XM_011529342.1:c.708T>C	XP_011527644.1:p.Thr236=
XM_011529343.1:c.708T>C	XP_011527645.1:p.Thr236=
XM_011529344.1:c.339T>C	XP_011527646.1:p.Thr113=
XR_430269.2:n.728T>C
XR_937140.1:n.728T>C
NM_001352403.1:c.237T>C	NP_001339332.1:p.Thr79=
NM_001352406.1:c.147T>C	NP_001339335.1:p.Thr49=
NM_001352407.1:c.147T>C	NP_001339336.1:p.Thr49=
NM_001352408.1:c.708T>C	NP_001339337.1:p.Thr236=
NR_147978.1:n.751T>C
NR_147979.1:n.771T>C
NR_147980.1:n.647T>C
NR_147981.1:n.885T>C
NR_147982.1:n.885T>C
NR_147983.1:n.801T>C
XM_006723624.2:c.237T>C	XP_006723687.1:p.Thr79=
XM_011529342.2:c.708T>C	XP_011527644.1:p.Thr236=
XM_024451999.1:c.237T>C	XP_024307767.1:p.Thr79=
XR_001754396.1:n.667T>C
XR_430269.3:n.728T>C
XR_937140.2:n.728T>C
NM_024120.5:c.708T>C MANE Select	NP_077025.2:p.Thr236=
NM_001039375.3:c.624T>C	NP_001034464.1:p.Thr208=
NM_001352403.2:c.237T>C	NP_001339332.1:p.Thr79=
NM_001352406.2:c.147T>C	NP_001339335.1:p.Thr49=
NM_001352407.2:c.147T>C	NP_001339336.1:p.Thr49=
NR_029377.2:n.749T>C
NR_147978.2:n.749T>C
NR_147979.2:n.769T>C
NR_147980.2:n.645T>C
NR_147981.2:n.883T>C
NR_147982.2:n.883T>C
NR_147983.2:n.799T>C
NM_001352408.2:c.708T>C	NP_001339337.1:p.Thr236=