Canonical Allele Identifier: CA430953629

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009744T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145020T>A , CM000664.2:g.206145020T>A	GRCh38
NC_000002.11:g.207009744T>A , CM000664.1:g.207009744T>A	GRCh37
NC_000002.10:g.206717989T>A	NCBI36
NG_009248.1:g.19444A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.744A>T MANE Select	ENSP00000233190.5:p.Thr248=
ENST00000233190.10:c.744A>T	ENSP00000233190.5:p.Thr248=
ENST00000423725.5:c.573A>T	ENSP00000397760.1:p.Thr191=
ENST00000432169.5:c.411A>T	ENSP00000409689.1:p.Thr137=
ENST00000440274.5:c.636A>T	ENSP00000409766.1:p.Thr212=
ENST00000449699.5:c.744A>T	ENSP00000399912.1:p.Thr248=
ENST00000455934.6:c.786A>T	ENSP00000392709.2:p.Thr262=
ENST00000457011.5:c.396A>T	ENSP00000400976.1:p.Thr132=
NM_001199981.1:c.636A>T	NP_001186910.1:p.Thr212=
NM_001199982.1:c.411A>T	NP_001186911.1:p.Thr137=
NM_001199983.1:c.573A>T	NP_001186912.1:p.Thr191=
NM_001199984.1:c.786A>T	NP_001186913.1:p.Thr262=
NM_005006.6:c.744A>T	NP_004997.4:p.Thr248=
XM_017004188.2:c.-16A>T	XP_016859677.1:n.-16A>T
NM_001199981.2:c.636A>T	NP_001186910.1:p.Thr212=
NM_001199982.2:c.411A>T	NP_001186911.1:p.Thr137=
NM_001199983.2:c.573A>T	NP_001186912.1:p.Thr191=
NM_005006.7:c.744A>T MANE Select	NP_004997.4:p.Thr248=
NM_001199984.2:c.786A>T	NP_001186913.1:p.Thr262=