Canonical Allele Identifier: CA63679027
Community Standard Title: NM_005006.7(NDUFS1):c.-76G>A
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206159412C>T , CM000664.2:g.206159412C>T GRCh38
NC_000002.11:g.207024136C>T , CM000664.1:g.207024136C>T GRCh37
NC_000002.10:g.206732381C>T NCBI36
NG_009248.1:g.5052G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005006.7:c.-76G>A MANE Select NP_004997.4:n.-76G>A
ENST00000233190.11:c.-76G>A MANE Select ENSP00000233190.5:n.-76G>A
NM_001199981.1:c.-76G>A NP_001186910.1:n.-76G>A
NM_001199981.2:c.-76G>A NP_001186910.1:n.-76G>A
NM_001199982.1:c.-132G>A NP_001186911.1:n.-132G>A
NM_001199982.2:c.-132G>A NP_001186911.1:n.-132G>A
NM_001199983.1:c.-155G>A NP_001186912.1:n.-155G>A
NM_001199983.2:c.-155G>A NP_001186912.1:n.-155G>A
NM_005006.6:c.-76G>A NP_004997.4:n.-76G>A
ENST00000233190.10:c.-76G>A ENSP00000233190.5:n.-76G>A
ENST00000423725.5:c.-155G>A ENSP00000397760.1:n.-155G>A
ENST00000432169.5:c.-132G>A ENSP00000409689.1:n.-132G>A
ENST00000440274.5:c.-76G>A ENSP00000409766.1:n.-76G>A
ENST00000456284.5:c.-76G>A ENSP00000395553.1:n.-76G>A
ENST00000457011.5:c.-82G>A ENSP00000400976.1:n.-82G>A
XM_017004188.2:c.-866G>A XP_016859677.1:n.-866G>A