Canonical Allele Identifier: CA350057444

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206144971-T-C
• MyVariant Identifiers: chr2:g.207009695T>C (hg19) ; chr2:g.206144971T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144971T>C , CM000664.2:g.206144971T>C	GRCh38
NC_000002.11:g.207009695T>C , CM000664.1:g.207009695T>C	GRCh37
NC_000002.10:g.206717940T>C	NCBI36
NG_009248.1:g.19493A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.793A>G MANE Select	ENSP00000233190.5:p.Thr265Ala
ENST00000233190.10:c.793A>G	ENSP00000233190.5:p.Thr265Ala
ENST00000423725.5:c.622A>G	ENSP00000397760.1:p.Thr208Ala
ENST00000432169.5:c.460A>G	ENSP00000409689.1:p.Thr154Ala
ENST00000440274.5:c.685A>G	ENSP00000409766.1:p.Thr229Ala
ENST00000449699.5:c.793A>G	ENSP00000399912.1:p.Thr265Ala
ENST00000455934.6:c.835A>G	ENSP00000392709.2:p.Thr279Ala
ENST00000457011.5:c.445A>G	ENSP00000400976.1:p.Thr149Ala
NM_001199981.1:c.685A>G	NP_001186910.1:p.Thr229Ala
NM_001199982.1:c.460A>G	NP_001186911.1:p.Thr154Ala
NM_001199983.1:c.622A>G	NP_001186912.1:p.Thr208Ala
NM_001199984.1:c.835A>G	NP_001186913.1:p.Thr279Ala
NM_005006.6:c.793A>G	NP_004997.4:p.Thr265Ala
XM_017004188.2:c.34A>G	XP_016859677.1:p.Thr12Ala
NM_001199981.2:c.685A>G	NP_001186910.1:p.Thr229Ala
NM_001199982.2:c.460A>G	NP_001186911.1:p.Thr154Ala
NM_001199983.2:c.622A>G	NP_001186912.1:p.Thr208Ala
NM_005006.7:c.793A>G MANE Select	NP_004997.4:p.Thr265Ala
NM_001199984.2:c.835A>G	NP_001186913.1:p.Thr279Ala