Canonical Allele Identifier: CA2496479120
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206127911T= , CM000664.2:g.206127911T= GRCh38
NC_000002.11:g.206992635T= , CM000664.1:g.206992635T= GRCh37
NC_000002.10:g.206700880T= NCBI36
NG_009248.1:g.36553A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.1770A= MANE Select ENSP00000233190.5:p.Thr590=
ENST00000233190.10:c.1770A= ENSP00000233190.5:p.Thr590=
ENST00000423725.5:c.1599A= ENSP00000397760.1:p.Thr533=
ENST00000432169.5:c.1437A= ENSP00000409689.1:p.Thr479=
ENST00000440274.5:c.1662A= ENSP00000409766.1:p.Thr554=
ENST00000449699.5:c.1770A= ENSP00000399912.1:p.Thr590=
ENST00000455934.6:c.1812A= ENSP00000392709.2:p.Thr604=
ENST00000457011.5:c.1422A= ENSP00000400976.1:p.Thr474=
ENST00000498520.1:n.242A=
NM_001199981.1:c.1662A= NP_001186910.1:p.Thr554=
NM_001199982.1:c.1437A= NP_001186911.1:p.Thr479=
NM_001199983.1:c.1599A= NP_001186912.1:p.Thr533=
NM_001199984.1:c.1812A= NP_001186913.1:p.Thr604=
NM_005006.6:c.1770A= NP_004997.4:p.Thr590=
XM_017004188.2:c.1011A= XP_016859677.1:p.Thr337=
NM_001199981.2:c.1662A= NP_001186910.1:p.Thr554=
NM_001199982.2:c.1437A= NP_001186911.1:p.Thr479=
NM_001199983.2:c.1599A= NP_001186912.1:p.Thr533=
NM_005006.7:c.1770A= MANE Select NP_004997.4:p.Thr590=
NM_001199984.2:c.1812A= NP_001186913.1:p.Thr604=