Canonical Allele Identifier: CA359718970

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53560691-T-C
• MyVariant Identifiers: chr5:g.52856521T>C (hg19) ; chr5:g.53560691T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560691T>C , CM000667.2:g.53560691T>C	GRCh38
NC_000005.9:g.52856521T>C , CM000667.1:g.52856521T>C	GRCh37
NC_000005.8:g.52892278T>C	NCBI36
NG_008200.1:g.5057T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.29T>C MANE Select	ENSP00000296684.5:p.Leu10Pro
ENST00000296684.9:c.29T>C	ENSP00000296684.5:p.Leu10Pro
ENST00000502423.5:c.29T>C	ENSP00000422177.1:p.Leu10Pro
ENST00000506765.1:c.17T>C	ENSP00000424570.1:p.Leu6Pro
ENST00000506974.5:c.29T>C	ENSP00000425967.1:p.Leu10Pro
ENST00000507026.5:c.29T>C	ENSP00000424993.1:p.Leu10Pro
NM_002495.2:c.29T>C	NP_002486.1:p.Leu10Pro
XM_005248525.3:c.29T>C	XP_005248582.1:p.Leu10Pro
XM_011543414.1:c.29T>C	XP_011541716.1:p.Leu10Pro
NM_001318051.1:c.29T>C	NP_001304980.1:p.Leu10Pro
NM_002495.3:c.29T>C	NP_002486.1:p.Leu10Pro
NR_134473.1:n.59T>C
NR_134474.1:n.59T>C
NR_134475.1:n.59T>C
XM_017009491.1:c.29T>C	XP_016864980.1:p.Leu10Pro
NM_002495.4:c.29T>C MANE Select	NP_002486.1:p.Leu10Pro
NM_001318051.2:c.29T>C	NP_001304980.1:p.Leu10Pro
NR_134473.2:n.53T>C
NR_134474.2:n.53T>C
NR_134475.2:n.53T>C