Canonical Allele Identifier: CA63644533
Gene: NDUFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1024278146
MyVariant Identifiers: chr2:g.206986683A>G (hg19) chr2:g.206121959A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206121959A>G , CM000664.2:g.206121959A>G GRCh38
NC_000002.11:g.206986683A>G , CM000664.1:g.206986683A>G GRCh37
NC_000002.10:g.206694928A>G NCBI36
NG_009248.1:g.42505T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.*2226T>C MANE Select ENSP00000233190.5:n.*2226T>C
ENST00000233190.10:c.*2226T>C ENSP00000233190.5:n.*2226T>C
NM_001199981.2:c.*2226T>C NP_001186910.1:n.*2226T>C
NM_001199982.2:c.*2226T>C NP_001186911.1:n.*2226T>C
NM_001199983.2:c.*2226T>C NP_001186912.1:n.*2226T>C
NM_005006.7:c.*2226T>C MANE Select NP_004997.4:n.*2226T>C
NM_001199984.2:c.*2226T>C NP_001186913.1:n.*2226T>C
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