Canonical Allele Identifier: CA350057745

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009739G>A (hg19) ; chr2:g.206145015G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145015G>A , CM000664.2:g.206145015G>A	GRCh38
NC_000002.11:g.207009739G>A , CM000664.1:g.207009739G>A	GRCh37
NC_000002.10:g.206717984G>A	NCBI36
NG_009248.1:g.19449C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.749C>T MANE Select	ENSP00000233190.5:p.Ser250Phe
ENST00000233190.10:c.749C>T	ENSP00000233190.5:p.Ser250Phe
ENST00000423725.5:c.578C>T	ENSP00000397760.1:p.Ser193Phe
ENST00000432169.5:c.416C>T	ENSP00000409689.1:p.Ser139Phe
ENST00000440274.5:c.641C>T	ENSP00000409766.1:p.Ser214Phe
ENST00000449699.5:c.749C>T	ENSP00000399912.1:p.Ser250Phe
ENST00000455934.6:c.791C>T	ENSP00000392709.2:p.Ser264Phe
ENST00000457011.5:c.401C>T	ENSP00000400976.1:p.Ser134Phe
NM_001199981.1:c.641C>T	NP_001186910.1:p.Ser214Phe
NM_001199982.1:c.416C>T	NP_001186911.1:p.Ser139Phe
NM_001199983.1:c.578C>T	NP_001186912.1:p.Ser193Phe
NM_001199984.1:c.791C>T	NP_001186913.1:p.Ser264Phe
NM_005006.6:c.749C>T	NP_004997.4:p.Ser250Phe
XM_017004188.2:c.-11C>T	XP_016859677.1:n.-11C>T
NM_001199981.2:c.641C>T	NP_001186910.1:p.Ser214Phe
NM_001199982.2:c.416C>T	NP_001186911.1:p.Ser139Phe
NM_001199983.2:c.578C>T	NP_001186912.1:p.Ser193Phe
NM_005006.7:c.749C>T MANE Select	NP_004997.4:p.Ser250Phe
NM_001199984.2:c.791C>T	NP_001186913.1:p.Ser264Phe