Canonical Allele Identifier: CA430952700

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009654A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144930A>G , CM000664.2:g.206144930A>G	GRCh38
NC_000002.11:g.207009654A>G , CM000664.1:g.207009654A>G	GRCh37
NC_000002.10:g.206717899A>G	NCBI36
NG_009248.1:g.19534T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.834T>C MANE Select	ENSP00000233190.5:p.His278=
ENST00000233190.10:c.834T>C	ENSP00000233190.5:p.His278=
ENST00000423725.5:c.663T>C	ENSP00000397760.1:p.His221=
ENST00000432169.5:c.501T>C	ENSP00000409689.1:p.His167=
ENST00000440274.5:c.726T>C	ENSP00000409766.1:p.His242=
ENST00000449699.5:c.834T>C	ENSP00000399912.1:p.His278=
ENST00000455934.6:c.876T>C	ENSP00000392709.2:p.His292=
ENST00000457011.5:c.486T>C	ENSP00000400976.1:p.His162=
NM_001199981.1:c.726T>C	NP_001186910.1:p.His242=
NM_001199982.1:c.501T>C	NP_001186911.1:p.His167=
NM_001199983.1:c.663T>C	NP_001186912.1:p.His221=
NM_001199984.1:c.876T>C	NP_001186913.1:p.His292=
NM_005006.6:c.834T>C	NP_004997.4:p.His278=
XM_017004188.2:c.75T>C	XP_016859677.1:p.His25=
NM_001199981.2:c.726T>C	NP_001186910.1:p.His242=
NM_001199982.2:c.501T>C	NP_001186911.1:p.His167=
NM_001199983.2:c.663T>C	NP_001186912.1:p.His221=
NM_005006.7:c.834T>C MANE Select	NP_004997.4:p.His278=
NM_001199984.2:c.876T>C	NP_001186913.1:p.His292=