Canonical Allele Identifier: CA350043900
Gene: NDUFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206127970G>A , CM000664.2:g.206127970G>A GRCh38
NC_000002.11:g.206992694G>A , CM000664.1:g.206992694G>A GRCh37
NC_000002.10:g.206700939G>A NCBI36
NG_009248.1:g.36494C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.1711C>T MANE Select ENSP00000233190.5:p.His571Tyr
ENST00000233190.10:c.1711C>T ENSP00000233190.5:p.His571Tyr
ENST00000423725.5:c.1540C>T ENSP00000397760.1:p.His514Tyr
ENST00000432169.5:c.1378C>T ENSP00000409689.1:p.His460Tyr
ENST00000440274.5:c.1603C>T ENSP00000409766.1:p.His535Tyr
ENST00000449699.5:c.1711C>T ENSP00000399912.1:p.His571Tyr
ENST00000455934.6:c.1753C>T ENSP00000392709.2:p.His585Tyr
ENST00000457011.5:c.1363C>T ENSP00000400976.1:p.His455Tyr
ENST00000498520.1:n.183C>T
NM_001199981.1:c.1603C>T NP_001186910.1:p.His535Tyr
NM_001199982.1:c.1378C>T NP_001186911.1:p.His460Tyr
NM_001199983.1:c.1540C>T NP_001186912.1:p.His514Tyr
NM_001199984.1:c.1753C>T NP_001186913.1:p.His585Tyr
NM_005006.6:c.1711C>T NP_004997.4:p.His571Tyr
XM_017004188.2:c.952C>T XP_016859677.1:p.His318Tyr
NM_001199981.2:c.1603C>T NP_001186910.1:p.His535Tyr
NM_001199982.2:c.1378C>T NP_001186911.1:p.His460Tyr
NM_001199983.2:c.1540C>T NP_001186912.1:p.His514Tyr
NM_005006.7:c.1711C>T MANE Select NP_004997.4:p.His571Tyr
NM_001199984.2:c.1753C>T NP_001186913.1:p.His585Tyr