Canonical Allele Identifier: CA63645950
Community Standard Title: NM_005006.7(NDUFS1):c.*341A>G
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206123844T>C , CM000664.2:g.206123844T>C GRCh38
NC_000002.11:g.206988568T>C , CM000664.1:g.206988568T>C GRCh37
NC_000002.10:g.206696813T>C NCBI36
NG_009248.1:g.40620A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005006.7:c.*341A>G MANE Select NP_004997.4:n.*341A>G
ENST00000233190.11:c.*341A>G MANE Select ENSP00000233190.5:n.*341A>G
NM_001199981.1:c.*341A>G NP_001186910.1:n.*341A>G
NM_001199981.2:c.*341A>G NP_001186910.1:n.*341A>G
NM_001199982.1:c.*341A>G NP_001186911.1:n.*341A>G
NM_001199982.2:c.*341A>G NP_001186911.1:n.*341A>G
NM_001199983.1:c.*341A>G NP_001186912.1:n.*341A>G
NM_001199983.2:c.*341A>G NP_001186912.1:n.*341A>G
NM_001199984.1:c.*341A>G NP_001186913.1:n.*341A>G
NM_001199984.2:c.*341A>G NP_001186913.1:n.*341A>G
NM_005006.6:c.*341A>G NP_004997.4:n.*341A>G
ENST00000233190.10:c.*341A>G ENSP00000233190.5:n.*341A>G
ENST00000423725.5:c.*341A>G ENSP00000397760.1:n.*341A>G
ENST00000455934.6:c.*341A>G ENSP00000392709.2:n.*341A>G
XM_017004188.2:c.*341A>G XP_016859677.1:n.*341A>G