Canonical Allele Identifier: CA350051806

Gene: NDUFS1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206141952T>G , CM000664.2:g.206141952T>G	GRCh38
NC_000002.11:g.207006676T>G , CM000664.1:g.207006676T>G	GRCh37
NC_000002.10:g.206714921T>G	NCBI36
NG_009248.1:g.22512A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1251A>C MANE Select	ENSP00000233190.5:p.Arg417Ser
ENST00000233190.10:c.1251A>C	ENSP00000233190.5:p.Arg417Ser
ENST00000423725.5:c.1080A>C	ENSP00000397760.1:p.Arg360Ser
ENST00000432169.5:c.918A>C	ENSP00000409689.1:p.Arg306Ser
ENST00000440274.5:c.1143A>C	ENSP00000409766.1:p.Arg381Ser
ENST00000449699.5:c.1251A>C	ENSP00000399912.1:p.Arg417Ser
ENST00000455934.6:c.1293A>C	ENSP00000392709.2:p.Arg431Ser
ENST00000457011.5:c.903A>C	ENSP00000400976.1:p.Arg301Ser
NM_001199981.1:c.1143A>C	NP_001186910.1:p.Arg381Ser
NM_001199982.1:c.918A>C	NP_001186911.1:p.Arg306Ser
NM_001199983.1:c.1080A>C	NP_001186912.1:p.Arg360Ser
NM_001199984.1:c.1293A>C	NP_001186913.1:p.Arg431Ser
NM_005006.6:c.1251A>C	NP_004997.4:p.Arg417Ser
XM_017004188.2:c.492A>C	XP_016859677.1:p.Arg164Ser
NM_001199981.2:c.1143A>C	NP_001186910.1:p.Arg381Ser
NM_001199982.2:c.918A>C	NP_001186911.1:p.Arg306Ser
NM_001199983.2:c.1080A>C	NP_001186912.1:p.Arg360Ser
NM_005006.7:c.1251A>C MANE Select	NP_004997.4:p.Arg417Ser
NM_001199984.2:c.1293A>C	NP_001186913.1:p.Arg431Ser