Canonical Allele Identifier: CA350057074

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009646A>G (hg19) ; chr2:g.206144922A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144922A>G , CM000664.2:g.206144922A>G	GRCh38
NC_000002.11:g.207009646A>G , CM000664.1:g.207009646A>G	GRCh37
NC_000002.10:g.206717891A>G	NCBI36
NG_009248.1:g.19542T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.842T>C MANE Select	ENSP00000233190.5:p.Ile281Thr
ENST00000233190.10:c.842T>C	ENSP00000233190.5:p.Ile281Thr
ENST00000423725.5:c.671T>C	ENSP00000397760.1:p.Ile224Thr
ENST00000432169.5:c.509T>C	ENSP00000409689.1:p.Ile170Thr
ENST00000440274.5:c.734T>C	ENSP00000409766.1:p.Ile245Thr
ENST00000449699.5:c.842T>C	ENSP00000399912.1:p.Ile281Thr
ENST00000455934.6:c.884T>C	ENSP00000392709.2:p.Ile295Thr
ENST00000457011.5:c.494T>C	ENSP00000400976.1:p.Ile165Thr
NM_001199981.1:c.734T>C	NP_001186910.1:p.Ile245Thr
NM_001199982.1:c.509T>C	NP_001186911.1:p.Ile170Thr
NM_001199983.1:c.671T>C	NP_001186912.1:p.Ile224Thr
NM_001199984.1:c.884T>C	NP_001186913.1:p.Ile295Thr
NM_005006.6:c.842T>C	NP_004997.4:p.Ile281Thr
XM_017004188.2:c.83T>C	XP_016859677.1:p.Ile28Thr
NM_001199981.2:c.734T>C	NP_001186910.1:p.Ile245Thr
NM_001199982.2:c.509T>C	NP_001186911.1:p.Ile170Thr
NM_001199983.2:c.671T>C	NP_001186912.1:p.Ile224Thr
NM_005006.7:c.842T>C MANE Select	NP_004997.4:p.Ile281Thr
NM_001199984.2:c.884T>C	NP_001186913.1:p.Ile295Thr