Canonical Allele Identifier: CA350063391

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207013753T>G (hg19) ; chr2:g.206149029T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000233190.11:c.329A>C MANE Select	ENSP00000233190.5:p.Lys110Thr
ENST00000233190.10:c.329A>C	ENSP00000233190.5:p.Lys110Thr
ENST00000423725.5:c.158A>C	ENSP00000397760.1:p.Lys53Thr
ENST00000432169.5:c.6-1195A>C	ENSP00000409689.1:n.6-1195A>C
ENST00000440274.5:c.221A>C	ENSP00000409766.1:p.Lys74Thr
ENST00000449699.5:c.329A>C	ENSP00000399912.1:p.Lys110Thr
ENST00000454195.1:c.329A>C	ENSP00000389413.1:p.Lys110Thr
ENST00000455934.6:c.371A>C	ENSP00000392709.2:p.Lys124Thr
ENST00000456284.5:c.*91A>C	ENSP00000395553.1:n.*91A>C
ENST00000457011.5:c.-10-1195A>C	ENSP00000400976.1:n.-10-1195A>C
NM_001199981.1:c.221A>C	NP_001186910.1:p.Lys74Thr
NM_001199982.1:c.6-1195A>C	NP_001186911.1:n.6-1195A>C
NM_001199983.1:c.158A>C	NP_001186912.1:p.Lys53Thr
NM_001199984.1:c.371A>C	NP_001186913.1:p.Lys124Thr
NM_005006.6:c.329A>C	NP_004997.4:p.Lys110Thr
XM_017004188.2:c.-462A>C	XP_016859677.1:n.-462A>C
NM_001199981.2:c.221A>C	NP_001186910.1:p.Lys74Thr
NM_001199982.2:c.6-1195A>C	NP_001186911.1:n.6-1195A>C
NM_001199983.2:c.158A>C	NP_001186912.1:p.Lys53Thr
NM_005006.7:c.329A>C MANE Select	NP_004997.4:p.Lys110Thr
NM_001199984.2:c.371A>C	NP_001186913.1:p.Lys124Thr