Canonical Allele Identifier: CA2070912

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206152509A>G , CM000664.2:g.206152509A>G	GRCh38
NC_000002.11:g.207017233A>G , CM000664.1:g.207017233A>G	GRCh37
NC_000002.10:g.206725478A>G	NCBI36
NG_009248.1:g.11955T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005006.7:c.63T>C MANE Select	NP_004997.4:p.Val21=
ENST00000233190.11:c.63T>C MANE Select	ENSP00000233190.5:p.Val21=
NM_001199981.1:c.63T>C	NP_001186910.1:p.Val21=
NM_001199981.2:c.63T>C	NP_001186910.1:p.Val21=
NM_001199982.1:c.5+1109T>C	NP_001186911.1:n.5+1109T>C
NM_001199982.2:c.5+1109T>C	NP_001186911.1:n.5+1109T>C
NM_001199983.1:c.-19+1109T>C	NP_001186912.1:n.-19+1109T>C
NM_001199983.2:c.-19+1109T>C	NP_001186912.1:n.-19+1109T>C
NM_001199984.1:c.105T>C	NP_001186913.1:p.Val35=
NM_001199984.2:c.105T>C	NP_001186913.1:p.Val35=
NM_005006.6:c.63T>C	NP_004997.4:p.Val21=
ENST00000233190.10:c.63T>C	ENSP00000233190.5:p.Val21=
ENST00000423725.5:c.-19+1109T>C	ENSP00000397760.1:n.-19+1109T>C
ENST00000432169.5:c.5+1109T>C	ENSP00000409689.1:n.5+1109T>C
ENST00000440274.5:c.63T>C	ENSP00000409766.1:p.Val21=
ENST00000449699.5:c.63T>C	ENSP00000399912.1:p.Val21=
ENST00000454195.1:c.63T>C	ENSP00000389413.1:p.Val21=
ENST00000455934.6:c.105T>C	ENSP00000392709.2:p.Val35=
ENST00000456284.5:c.63T>C	ENSP00000395553.1:p.Val21=
ENST00000457011.5:c.-10-4675T>C	ENSP00000400976.1:n.-10-4675T>C
XM_017004188.2:c.-728T>C	XP_016859677.1:n.-728T>C