Canonical Allele Identifier: CA350056935

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206144907-A-G
• MyVariant Identifiers: chr2:g.207009631A>G (hg19) ; chr2:g.206144907A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144907A>G , CM000664.2:g.206144907A>G	GRCh38
NC_000002.11:g.207009631A>G , CM000664.1:g.207009631A>G	GRCh37
NC_000002.10:g.206717876A>G	NCBI36
NG_009248.1:g.19557T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.857T>C MANE Select	ENSP00000233190.5:p.Ile286Thr
ENST00000233190.10:c.857T>C	ENSP00000233190.5:p.Ile286Thr
ENST00000423725.5:c.686T>C	ENSP00000397760.1:p.Ile229Thr
ENST00000432169.5:c.524T>C	ENSP00000409689.1:p.Ile175Thr
ENST00000440274.5:c.749T>C	ENSP00000409766.1:p.Ile250Thr
ENST00000449699.5:c.857T>C	ENSP00000399912.1:p.Ile286Thr
ENST00000455934.6:c.899T>C	ENSP00000392709.2:p.Ile300Thr
ENST00000457011.5:c.509T>C	ENSP00000400976.1:p.Ile170Thr
NM_001199981.1:c.749T>C	NP_001186910.1:p.Ile250Thr
NM_001199982.1:c.524T>C	NP_001186911.1:p.Ile175Thr
NM_001199983.1:c.686T>C	NP_001186912.1:p.Ile229Thr
NM_001199984.1:c.899T>C	NP_001186913.1:p.Ile300Thr
NM_005006.6:c.857T>C	NP_004997.4:p.Ile286Thr
XM_017004188.2:c.98T>C	XP_016859677.1:p.Ile33Thr
NM_001199981.2:c.749T>C	NP_001186910.1:p.Ile250Thr
NM_001199982.2:c.524T>C	NP_001186911.1:p.Ile175Thr
NM_001199983.2:c.686T>C	NP_001186912.1:p.Ile229Thr
NM_005006.7:c.857T>C MANE Select	NP_004997.4:p.Ile286Thr
NM_001199984.2:c.899T>C	NP_001186913.1:p.Ile300Thr