Canonical Allele Identifier: CA63679006
Community Standard Title: NM_005006.7(NDUFS1):c.-64T>C
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206159400A>G , CM000664.2:g.206159400A>G GRCh38
NC_000002.11:g.207024124A>G , CM000664.1:g.207024124A>G GRCh37
NC_000002.10:g.206732369A>G NCBI36
NG_009248.1:g.5064T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005006.7:c.-64T>C MANE Select NP_004997.4:n.-64T>C
ENST00000233190.11:c.-64T>C MANE Select ENSP00000233190.5:n.-64T>C
NM_001199981.1:c.-64T>C NP_001186910.1:n.-64T>C
NM_001199981.2:c.-64T>C NP_001186910.1:n.-64T>C
NM_001199982.1:c.-120T>C NP_001186911.1:n.-120T>C
NM_001199982.2:c.-120T>C NP_001186911.1:n.-120T>C
NM_001199983.1:c.-143T>C NP_001186912.1:n.-143T>C
NM_001199983.2:c.-143T>C NP_001186912.1:n.-143T>C
NM_005006.6:c.-64T>C NP_004997.4:n.-64T>C
ENST00000233190.10:c.-64T>C ENSP00000233190.5:n.-64T>C
ENST00000423725.5:c.-143T>C ENSP00000397760.1:n.-143T>C
ENST00000432169.5:c.-120T>C ENSP00000409689.1:n.-120T>C
ENST00000440274.5:c.-64T>C ENSP00000409766.1:n.-64T>C
ENST00000456284.5:c.-64T>C ENSP00000395553.1:n.-64T>C
ENST00000457011.5:c.-70T>C ENSP00000400976.1:n.-70T>C
XM_017004188.2:c.-854T>C XP_016859677.1:n.-854T>C