Canonical Allele Identifier: CA430951447

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009618G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144894G>A , CM000664.2:g.206144894G>A	GRCh38
NC_000002.11:g.207009618G>A , CM000664.1:g.207009618G>A	GRCh37
NC_000002.10:g.206717863G>A	NCBI36
NG_009248.1:g.19570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.870C>T MANE Select	ENSP00000233190.5:p.Thr290=
ENST00000233190.10:c.870C>T	ENSP00000233190.5:p.Thr290=
ENST00000423725.5:c.699C>T	ENSP00000397760.1:p.Thr233=
ENST00000432169.5:c.537C>T	ENSP00000409689.1:p.Thr179=
ENST00000440274.5:c.762C>T	ENSP00000409766.1:p.Thr254=
ENST00000449699.5:c.870C>T	ENSP00000399912.1:p.Thr290=
ENST00000455934.6:c.912C>T	ENSP00000392709.2:p.Thr304=
ENST00000457011.5:c.522C>T	ENSP00000400976.1:p.Thr174=
NM_001199981.1:c.762C>T	NP_001186910.1:p.Thr254=
NM_001199982.1:c.537C>T	NP_001186911.1:p.Thr179=
NM_001199983.1:c.699C>T	NP_001186912.1:p.Thr233=
NM_001199984.1:c.912C>T	NP_001186913.1:p.Thr304=
NM_005006.6:c.870C>T	NP_004997.4:p.Thr290=
XM_017004188.2:c.111C>T	XP_016859677.1:p.Thr37=
NM_001199981.2:c.762C>T	NP_001186910.1:p.Thr254=
NM_001199982.2:c.537C>T	NP_001186911.1:p.Thr179=
NM_001199983.2:c.699C>T	NP_001186912.1:p.Thr233=
NM_005006.7:c.870C>T MANE Select	NP_004997.4:p.Thr290=
NM_001199984.2:c.912C>T	NP_001186913.1:p.Thr304=