Canonical Allele Identifier: CA350043442

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992622T>A (hg19) ; chr2:g.206127898T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127898T>A , CM000664.2:g.206127898T>A	GRCh38
NC_000002.11:g.206992622T>A , CM000664.1:g.206992622T>A	GRCh37
NC_000002.10:g.206700867T>A	NCBI36
NG_009248.1:g.36566A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1783A>T MANE Select	ENSP00000233190.5:p.Thr595Ser
ENST00000233190.10:c.1783A>T	ENSP00000233190.5:p.Thr595Ser
ENST00000423725.5:c.1612A>T	ENSP00000397760.1:p.Thr538Ser
ENST00000432169.5:c.1450A>T	ENSP00000409689.1:p.Thr484Ser
ENST00000440274.5:c.1675A>T	ENSP00000409766.1:p.Thr559Ser
ENST00000449699.5:c.1783A>T	ENSP00000399912.1:p.Thr595Ser
ENST00000455934.6:c.1825A>T	ENSP00000392709.2:p.Thr609Ser
ENST00000457011.5:c.1435A>T	ENSP00000400976.1:p.Thr479Ser
ENST00000498520.1:n.255A>T
NM_001199981.1:c.1675A>T	NP_001186910.1:p.Thr559Ser
NM_001199982.1:c.1450A>T	NP_001186911.1:p.Thr484Ser
NM_001199983.1:c.1612A>T	NP_001186912.1:p.Thr538Ser
NM_001199984.1:c.1825A>T	NP_001186913.1:p.Thr609Ser
NM_005006.6:c.1783A>T	NP_004997.4:p.Thr595Ser
XM_017004188.2:c.1024A>T	XP_016859677.1:p.Thr342Ser
NM_001199981.2:c.1675A>T	NP_001186910.1:p.Thr559Ser
NM_001199982.2:c.1450A>T	NP_001186911.1:p.Thr484Ser
NM_001199983.2:c.1612A>T	NP_001186912.1:p.Thr538Ser
NM_005006.7:c.1783A>T MANE Select	NP_004997.4:p.Thr595Ser
NM_001199984.2:c.1825A>T	NP_001186913.1:p.Thr609Ser