Canonical Allele Identifier: CA350063395

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206149029-T-A
• MyVariant Identifiers: chr2:g.207013753T>A (hg19) ; chr2:g.206149029T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206149029T>A , CM000664.2:g.206149029T>A	GRCh38
NC_000002.11:g.207013753T>A , CM000664.1:g.207013753T>A	GRCh37
NC_000002.10:g.206721998T>A	NCBI36
NG_009248.1:g.15435A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000233190.11:c.329A>T MANE Select	ENSP00000233190.5:p.Lys110Ile
ENST00000233190.10:c.329A>T	ENSP00000233190.5:p.Lys110Ile
ENST00000423725.5:c.158A>T	ENSP00000397760.1:p.Lys53Ile
ENST00000432169.5:c.6-1195A>T	ENSP00000409689.1:n.6-1195A>T
ENST00000440274.5:c.221A>T	ENSP00000409766.1:p.Lys74Ile
ENST00000449699.5:c.329A>T	ENSP00000399912.1:p.Lys110Ile
ENST00000454195.1:c.329A>T	ENSP00000389413.1:p.Lys110Ile
ENST00000455934.6:c.371A>T	ENSP00000392709.2:p.Lys124Ile
ENST00000456284.5:c.*91A>T	ENSP00000395553.1:n.*91A>T
ENST00000457011.5:c.-10-1195A>T	ENSP00000400976.1:n.-10-1195A>T
NM_001199981.1:c.221A>T	NP_001186910.1:p.Lys74Ile
NM_001199982.1:c.6-1195A>T	NP_001186911.1:n.6-1195A>T
NM_001199983.1:c.158A>T	NP_001186912.1:p.Lys53Ile
NM_001199984.1:c.371A>T	NP_001186913.1:p.Lys124Ile
NM_005006.6:c.329A>T	NP_004997.4:p.Lys110Ile
XM_017004188.2:c.-462A>T	XP_016859677.1:n.-462A>T
NM_001199981.2:c.221A>T	NP_001186910.1:p.Lys74Ile
NM_001199982.2:c.6-1195A>T	NP_001186911.1:n.6-1195A>T
NM_001199983.2:c.158A>T	NP_001186912.1:p.Lys53Ile
NM_005006.7:c.329A>T MANE Select	NP_004997.4:p.Lys110Ile
NM_001199984.2:c.371A>T	NP_001186913.1:p.Lys124Ile