Canonical Allele Identifier: CA2070517

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206141948G>A , CM000664.2:g.206141948G>A	GRCh38
NC_000002.11:g.207006672G>A , CM000664.1:g.207006672G>A	GRCh37
NC_000002.10:g.206714917G>A	NCBI36
NG_009248.1:g.22516C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1255C>T MANE Select	ENSP00000233190.5:p.Arg419Ter
ENST00000233190.10:c.1255C>T	ENSP00000233190.5:p.Arg419Ter
ENST00000423725.5:c.1084C>T	ENSP00000397760.1:p.Arg362Ter
ENST00000432169.5:c.922C>T	ENSP00000409689.1:p.Arg308Ter
ENST00000440274.5:c.1147C>T	ENSP00000409766.1:p.Arg383Ter
ENST00000449699.5:c.1255C>T	ENSP00000399912.1:p.Arg419Ter
ENST00000455934.6:c.1297C>T	ENSP00000392709.2:p.Arg433Ter
ENST00000457011.5:c.907C>T	ENSP00000400976.1:p.Arg303Ter
NM_001199981.1:c.1147C>T	NP_001186910.1:p.Arg383Ter
NM_001199982.1:c.922C>T	NP_001186911.1:p.Arg308Ter
NM_001199983.1:c.1084C>T	NP_001186912.1:p.Arg362Ter
NM_001199984.1:c.1297C>T	NP_001186913.1:p.Arg433Ter
NM_005006.6:c.1255C>T	NP_004997.4:p.Arg419Ter
XM_017004188.2:c.496C>T	XP_016859677.1:p.Arg166Ter
NM_001199981.2:c.1147C>T	NP_001186910.1:p.Arg383Ter
NM_001199982.2:c.922C>T	NP_001186911.1:p.Arg308Ter
NM_001199983.2:c.1084C>T	NP_001186912.1:p.Arg362Ter
NM_005006.7:c.1255C>T MANE Select	NP_004997.4:p.Arg419Ter
NM_001199984.2:c.1297C>T	NP_001186913.1:p.Arg433Ter