Canonical Allele Identifier: CA292484

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144030G>A , CM000664.2:g.206144030G>A	GRCh38
NC_000002.11:g.207008754G>A , CM000664.1:g.207008754G>A	GRCh37
NC_000002.10:g.206716999G>A	NCBI36
NG_009248.1:g.20434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.975C>T MANE Select	ENSP00000233190.5:p.Arg325=
ENST00000233190.10:c.975C>T	ENSP00000233190.5:p.Arg325=
ENST00000423725.5:c.804C>T	ENSP00000397760.1:p.Arg268=
ENST00000432169.5:c.642C>T	ENSP00000409689.1:p.Arg214=
ENST00000440274.5:c.867C>T	ENSP00000409766.1:p.Arg289=
ENST00000449699.5:c.975C>T	ENSP00000399912.1:p.Arg325=
ENST00000455934.6:c.1017C>T	ENSP00000392709.2:p.Arg339=
ENST00000457011.5:c.627C>T	ENSP00000400976.1:p.Arg209=
NM_001199981.1:c.867C>T	NP_001186910.1:p.Arg289=
NM_001199982.1:c.642C>T	NP_001186911.1:p.Arg214=
NM_001199983.1:c.804C>T	NP_001186912.1:p.Arg268=
NM_001199984.1:c.1017C>T	NP_001186913.1:p.Arg339=
NM_005006.6:c.975C>T	NP_004997.4:p.Arg325=
XM_017004188.2:c.216C>T	XP_016859677.1:p.Arg72=
NM_001199981.2:c.867C>T	NP_001186910.1:p.Arg289=
NM_001199982.2:c.642C>T	NP_001186911.1:p.Arg214=
NM_001199983.2:c.804C>T	NP_001186912.1:p.Arg268=
NM_005006.7:c.975C>T MANE Select	NP_004997.4:p.Arg325=
NM_001199984.2:c.1017C>T	NP_001186913.1:p.Arg339=