Canonical Allele Identifier: CA350057201

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206144935-T-A
• MyVariant Identifiers: chr2:g.207009659T>A (hg19) ; chr2:g.206144935T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144935T>A , CM000664.2:g.206144935T>A	GRCh38
NC_000002.11:g.207009659T>A , CM000664.1:g.207009659T>A	GRCh37
NC_000002.10:g.206717904T>A	NCBI36
NG_009248.1:g.19529A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.829A>T MANE Select	ENSP00000233190.5:p.Met277Leu
ENST00000233190.10:c.829A>T	ENSP00000233190.5:p.Met277Leu
ENST00000423725.5:c.658A>T	ENSP00000397760.1:p.Met220Leu
ENST00000432169.5:c.496A>T	ENSP00000409689.1:p.Met166Leu
ENST00000440274.5:c.721A>T	ENSP00000409766.1:p.Met241Leu
ENST00000449699.5:c.829A>T	ENSP00000399912.1:p.Met277Leu
ENST00000455934.6:c.871A>T	ENSP00000392709.2:p.Met291Leu
ENST00000457011.5:c.481A>T	ENSP00000400976.1:p.Met161Leu
NM_001199981.1:c.721A>T	NP_001186910.1:p.Met241Leu
NM_001199982.1:c.496A>T	NP_001186911.1:p.Met166Leu
NM_001199983.1:c.658A>T	NP_001186912.1:p.Met220Leu
NM_001199984.1:c.871A>T	NP_001186913.1:p.Met291Leu
NM_005006.6:c.829A>T	NP_004997.4:p.Met277Leu
XM_017004188.2:c.70A>T	XP_016859677.1:p.Met24Leu
NM_001199981.2:c.721A>T	NP_001186910.1:p.Met241Leu
NM_001199982.2:c.496A>T	NP_001186911.1:p.Met166Leu
NM_001199983.2:c.658A>T	NP_001186912.1:p.Met220Leu
NM_005006.7:c.829A>T MANE Select	NP_004997.4:p.Met277Leu
NM_001199984.2:c.871A>T	NP_001186913.1:p.Met291Leu