Canonical Allele Identifier: CA350061036

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206147564A>C , CM000664.2:g.206147564A>C	GRCh38
NC_000002.11:g.207012288A>C , CM000664.1:g.207012288A>C	GRCh37
NC_000002.10:g.206720533A>C	NCBI36
NG_009248.1:g.16900T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005006.7:c.518T>G MANE Select	NP_004997.4:p.Met173Arg
ENST00000233190.11:c.518T>G MANE Select	ENSP00000233190.5:p.Met173Arg
NM_001199981.1:c.410T>G	NP_001186910.1:p.Met137Arg
NM_001199981.2:c.410T>G	NP_001186910.1:p.Met137Arg
NM_001199982.1:c.185T>G	NP_001186911.1:p.Met62Arg
NM_001199982.2:c.185T>G	NP_001186911.1:p.Met62Arg
NM_001199983.1:c.347T>G	NP_001186912.1:p.Met116Arg
NM_001199983.2:c.347T>G	NP_001186912.1:p.Met116Arg
NM_001199984.1:c.560T>G	NP_001186913.1:p.Met187Arg
NM_001199984.2:c.560T>G	NP_001186913.1:p.Met187Arg
NM_005006.6:c.518T>G	NP_004997.4:p.Met173Arg
ENST00000233190.10:c.518T>G	ENSP00000233190.5:p.Met173Arg
ENST00000423725.5:c.347T>G	ENSP00000397760.1:p.Met116Arg
ENST00000432169.5:c.185T>G	ENSP00000409689.1:p.Met62Arg
ENST00000440274.5:c.410T>G	ENSP00000409766.1:p.Met137Arg
ENST00000449699.5:c.518T>G	ENSP00000399912.1:p.Met173Arg
ENST00000455934.6:c.560T>G	ENSP00000392709.2:p.Met187Arg
ENST00000457011.5:c.170T>G	ENSP00000400976.1:p.Met57Arg
XM_017004188.2:c.-273T>G	XP_016859677.1:n.-273T>G