Canonical Allele Identifier: CA350057606

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009722C>A (hg19) ; chr2:g.206144998C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144998C>A , CM000664.2:g.206144998C>A	GRCh38
NC_000002.11:g.207009722C>A , CM000664.1:g.207009722C>A	GRCh37
NC_000002.10:g.206717967C>A	NCBI36
NG_009248.1:g.19466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.766G>T MANE Select	ENSP00000233190.5:p.Ala256Ser
ENST00000233190.10:c.766G>T	ENSP00000233190.5:p.Ala256Ser
ENST00000423725.5:c.595G>T	ENSP00000397760.1:p.Ala199Ser
ENST00000432169.5:c.433G>T	ENSP00000409689.1:p.Ala145Ser
ENST00000440274.5:c.658G>T	ENSP00000409766.1:p.Ala220Ser
ENST00000449699.5:c.766G>T	ENSP00000399912.1:p.Ala256Ser
ENST00000455934.6:c.808G>T	ENSP00000392709.2:p.Ala270Ser
ENST00000457011.5:c.418G>T	ENSP00000400976.1:p.Ala140Ser
NM_001199981.1:c.658G>T	NP_001186910.1:p.Ala220Ser
NM_001199982.1:c.433G>T	NP_001186911.1:p.Ala145Ser
NM_001199983.1:c.595G>T	NP_001186912.1:p.Ala199Ser
NM_001199984.1:c.808G>T	NP_001186913.1:p.Ala270Ser
NM_005006.6:c.766G>T	NP_004997.4:p.Ala256Ser
XM_017004188.2:c.7G>T	XP_016859677.1:p.Ala3Ser
NM_001199981.2:c.658G>T	NP_001186910.1:p.Ala220Ser
NM_001199982.2:c.433G>T	NP_001186911.1:p.Ala145Ser
NM_001199983.2:c.595G>T	NP_001186912.1:p.Ala199Ser
NM_005006.7:c.766G>T MANE Select	NP_004997.4:p.Ala256Ser
NM_001199984.2:c.808G>T	NP_001186913.1:p.Ala270Ser