Canonical Allele Identifier: CA350057531

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009709T>A (hg19) ; chr2:g.206144985T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144985T>A , CM000664.2:g.206144985T>A	GRCh38
NC_000002.11:g.207009709T>A , CM000664.1:g.207009709T>A	GRCh37
NC_000002.10:g.206717954T>A	NCBI36
NG_009248.1:g.19479A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.779A>T MANE Select	ENSP00000233190.5:p.Asn260Ile
ENST00000233190.10:c.779A>T	ENSP00000233190.5:p.Asn260Ile
ENST00000423725.5:c.608A>T	ENSP00000397760.1:p.Asn203Ile
ENST00000432169.5:c.446A>T	ENSP00000409689.1:p.Asn149Ile
ENST00000440274.5:c.671A>T	ENSP00000409766.1:p.Asn224Ile
ENST00000449699.5:c.779A>T	ENSP00000399912.1:p.Asn260Ile
ENST00000455934.6:c.821A>T	ENSP00000392709.2:p.Asn274Ile
ENST00000457011.5:c.431A>T	ENSP00000400976.1:p.Asn144Ile
NM_001199981.1:c.671A>T	NP_001186910.1:p.Asn224Ile
NM_001199982.1:c.446A>T	NP_001186911.1:p.Asn149Ile
NM_001199983.1:c.608A>T	NP_001186912.1:p.Asn203Ile
NM_001199984.1:c.821A>T	NP_001186913.1:p.Asn274Ile
NM_005006.6:c.779A>T	NP_004997.4:p.Asn260Ile
XM_017004188.2:c.20A>T	XP_016859677.1:p.Asn7Ile
NM_001199981.2:c.671A>T	NP_001186910.1:p.Asn224Ile
NM_001199982.2:c.446A>T	NP_001186911.1:p.Asn149Ile
NM_001199983.2:c.608A>T	NP_001186912.1:p.Asn203Ile
NM_005006.7:c.779A>T MANE Select	NP_004997.4:p.Asn260Ile
NM_001199984.2:c.821A>T	NP_001186913.1:p.Asn274Ile