Canonical Allele Identifier: CA350057792

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206145022-T-C
• MyVariant Identifiers: chr2:g.207009746T>C (hg19) ; chr2:g.206145022T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145022T>C , CM000664.2:g.206145022T>C	GRCh38
NC_000002.11:g.207009746T>C , CM000664.1:g.207009746T>C	GRCh37
NC_000002.10:g.206717991T>C	NCBI36
NG_009248.1:g.19442A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.742A>G MANE Select	ENSP00000233190.5:p.Thr248Ala
ENST00000233190.10:c.742A>G	ENSP00000233190.5:p.Thr248Ala
ENST00000423725.5:c.571A>G	ENSP00000397760.1:p.Thr191Ala
ENST00000432169.5:c.409A>G	ENSP00000409689.1:p.Thr137Ala
ENST00000440274.5:c.634A>G	ENSP00000409766.1:p.Thr212Ala
ENST00000449699.5:c.742A>G	ENSP00000399912.1:p.Thr248Ala
ENST00000455934.6:c.784A>G	ENSP00000392709.2:p.Thr262Ala
ENST00000457011.5:c.394A>G	ENSP00000400976.1:p.Thr132Ala
NM_001199981.1:c.634A>G	NP_001186910.1:p.Thr212Ala
NM_001199982.1:c.409A>G	NP_001186911.1:p.Thr137Ala
NM_001199983.1:c.571A>G	NP_001186912.1:p.Thr191Ala
NM_001199984.1:c.784A>G	NP_001186913.1:p.Thr262Ala
NM_005006.6:c.742A>G	NP_004997.4:p.Thr248Ala
XM_017004188.2:c.-18A>G	XP_016859677.1:n.-18A>G
NM_001199981.2:c.634A>G	NP_001186910.1:p.Thr212Ala
NM_001199982.2:c.409A>G	NP_001186911.1:p.Thr137Ala
NM_001199983.2:c.571A>G	NP_001186912.1:p.Thr191Ala
NM_005006.7:c.742A>G MANE Select	NP_004997.4:p.Thr248Ala
NM_001199984.2:c.784A>G	NP_001186913.1:p.Thr262Ala