Canonical Allele Identifier: CA63679024
Community Standard Title: NM_005006.7(NDUFS1):c.-75A>G
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206159411T>C , CM000664.2:g.206159411T>C GRCh38
NC_000002.11:g.207024135T>C , CM000664.1:g.207024135T>C GRCh37
NC_000002.10:g.206732380T>C NCBI36
NG_009248.1:g.5053A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005006.7:c.-75A>G MANE Select NP_004997.4:n.-75A>G
ENST00000233190.11:c.-75A>G MANE Select ENSP00000233190.5:n.-75A>G
NM_001199981.1:c.-75A>G NP_001186910.1:n.-75A>G
NM_001199981.2:c.-75A>G NP_001186910.1:n.-75A>G
NM_001199982.1:c.-131A>G NP_001186911.1:n.-131A>G
NM_001199982.2:c.-131A>G NP_001186911.1:n.-131A>G
NM_001199983.1:c.-154A>G NP_001186912.1:n.-154A>G
NM_001199983.2:c.-154A>G NP_001186912.1:n.-154A>G
NM_005006.6:c.-75A>G NP_004997.4:n.-75A>G
ENST00000233190.10:c.-75A>G ENSP00000233190.5:n.-75A>G
ENST00000423725.5:c.-154A>G ENSP00000397760.1:n.-154A>G
ENST00000432169.5:c.-131A>G ENSP00000409689.1:n.-131A>G
ENST00000440274.5:c.-75A>G ENSP00000409766.1:n.-75A>G
ENST00000456284.5:c.-75A>G ENSP00000395553.1:n.-75A>G
ENST00000457011.5:c.-81A>G ENSP00000400976.1:n.-81A>G
XM_017004188.2:c.-865A>G XP_016859677.1:n.-865A>G