Canonical Allele Identifier: CA2496487407
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145004T= , CM000664.2:g.206145004T= GRCh38
NC_000002.11:g.207009728T= , CM000664.1:g.207009728T= GRCh37
NC_000002.10:g.206717973T= NCBI36
NG_009248.1:g.19460A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.760A= MANE Select ENSP00000233190.5:p.Met254=
ENST00000233190.10:c.760A= ENSP00000233190.5:p.Met254=
ENST00000423725.5:c.589A= ENSP00000397760.1:p.Met197=
ENST00000432169.5:c.427A= ENSP00000409689.1:p.Met143=
ENST00000440274.5:c.652A= ENSP00000409766.1:p.Met218=
ENST00000449699.5:c.760A= ENSP00000399912.1:p.Met254=
ENST00000455934.6:c.802A= ENSP00000392709.2:p.Met268=
ENST00000457011.5:c.412A= ENSP00000400976.1:p.Met138=
NM_001199981.1:c.652A= NP_001186910.1:p.Met218=
NM_001199982.1:c.427A= NP_001186911.1:p.Met143=
NM_001199983.1:c.589A= NP_001186912.1:p.Met197=
NM_001199984.1:c.802A= NP_001186913.1:p.Met268=
NM_005006.6:c.760A= NP_004997.4:p.Met254=
XM_017004188.2:c.1A= XP_016859677.1:p.Met1=
NM_001199981.2:c.652A= NP_001186910.1:p.Met218=
NM_001199982.2:c.427A= NP_001186911.1:p.Met143=
NM_001199983.2:c.589A= NP_001186912.1:p.Met197=
NM_005006.7:c.760A= MANE Select NP_004997.4:p.Met254=
NM_001199984.2:c.802A= NP_001186913.1:p.Met268=