Canonical Allele Identifier: CA2753997243
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145131A>G , CM000664.2:g.206145131A>G GRCh38
NC_000002.11:g.207009855A>G , CM000664.1:g.207009855A>G GRCh37
NC_000002.10:g.206718100A>G NCBI36
NG_009248.1:g.19333T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.738-105T>C MANE Select ENSP00000233190.5:n.738-105T>C
ENST00000233190.10:c.738-105T>C ENSP00000233190.5:n.738-105T>C
ENST00000423725.5:c.567-105T>C ENSP00000397760.1:n.567-105T>C
ENST00000432169.5:c.405-105T>C ENSP00000409689.1:n.405-105T>C
ENST00000440274.5:c.630-105T>C ENSP00000409766.1:n.630-105T>C
ENST00000449699.5:c.738-105T>C ENSP00000399912.1:n.738-105T>C
ENST00000455934.6:c.780-105T>C ENSP00000392709.2:n.780-105T>C
ENST00000457011.5:c.390-105T>C ENSP00000400976.1:n.390-105T>C
NM_001199981.1:c.630-105T>C NP_001186910.1:n.630-105T>C
NM_001199982.1:c.405-105T>C NP_001186911.1:n.405-105T>C
NM_001199983.1:c.567-105T>C NP_001186912.1:n.567-105T>C
NM_001199984.1:c.780-105T>C NP_001186913.1:n.780-105T>C
NM_005006.6:c.738-105T>C NP_004997.4:n.738-105T>C
XM_017004188.2:c.-53-74T>C XP_016859677.1:n.-53-74T>C
NM_001199981.2:c.630-105T>C NP_001186910.1:n.630-105T>C
NM_001199982.2:c.405-105T>C NP_001186911.1:n.405-105T>C
NM_001199983.2:c.567-105T>C NP_001186912.1:n.567-105T>C
NM_005006.7:c.738-105T>C MANE Select NP_004997.4:n.738-105T>C
NM_001199984.2:c.780-105T>C NP_001186913.1:n.780-105T>C