Canonical Allele Identifier: CA763786887
Gene: NDUFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1331236053
MyVariant Identifiers: chr2:g.206987179C>G (hg19) chr2:g.206122455C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206122455C>G , CM000664.2:g.206122455C>G GRCh38
NC_000002.11:g.206987179C>G , CM000664.1:g.206987179C>G GRCh37
NC_000002.10:g.206695424C>G NCBI36
NG_009248.1:g.42009G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.*1730G>C MANE Select ENSP00000233190.5:n.*1730G>C
ENST00000233190.10:c.*1730G>C ENSP00000233190.5:n.*1730G>C
NM_001199981.2:c.*1730G>C NP_001186910.1:n.*1730G>C
NM_001199982.2:c.*1730G>C NP_001186911.1:n.*1730G>C
NM_001199983.2:c.*1730G>C NP_001186912.1:n.*1730G>C
NM_005006.7:c.*1730G>C MANE Select NP_004997.4:n.*1730G>C
NM_001199984.2:c.*1730G>C NP_001186913.1:n.*1730G>C
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