Canonical Allele Identifier: CA63650342

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206130130T>G , CM000664.2:g.206130130T>G	GRCh38
NC_000002.11:g.206994854T>G , CM000664.1:g.206994854T>G	GRCh37
NC_000002.10:g.206703099T>G	NCBI36
NG_009248.1:g.34334A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005006.7:c.1666A>C MANE Select	NP_004997.4:p.Thr556Pro
ENST00000233190.11:c.1666A>C MANE Select	ENSP00000233190.5:p.Thr556Pro
NM_001199981.1:c.1558A>C	NP_001186910.1:p.Thr520Pro
NM_001199981.2:c.1558A>C	NP_001186910.1:p.Thr520Pro
NM_001199982.1:c.1333A>C	NP_001186911.1:p.Thr445Pro
NM_001199982.2:c.1333A>C	NP_001186911.1:p.Thr445Pro
NM_001199983.1:c.1495A>C	NP_001186912.1:p.Thr499Pro
NM_001199983.2:c.1495A>C	NP_001186912.1:p.Thr499Pro
NM_001199984.1:c.1708A>C	NP_001186913.1:p.Thr570Pro
NM_001199984.2:c.1708A>C	NP_001186913.1:p.Thr570Pro
NM_005006.6:c.1666A>C	NP_004997.4:p.Thr556Pro
ENST00000233190.10:c.1666A>C	ENSP00000233190.5:p.Thr556Pro
ENST00000423725.5:c.1495A>C	ENSP00000397760.1:p.Thr499Pro
ENST00000432169.5:c.1333A>C	ENSP00000409689.1:p.Thr445Pro
ENST00000440274.5:c.1558A>C	ENSP00000409766.1:p.Thr520Pro
ENST00000449699.5:c.1666A>C	ENSP00000399912.1:p.Thr556Pro
ENST00000455934.6:c.1708A>C	ENSP00000392709.2:p.Thr570Pro
ENST00000457011.5:c.1318A>C	ENSP00000400976.1:p.Thr440Pro
ENST00000498520.1:n.138A>C
XM_017004188.2:c.907A>C	XP_016859677.1:p.Thr303Pro