Canonical Allele Identifier: CA763786643
Gene: NDUFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1488417440
gnomAD v3: 2-206121981-G-A
gnomAD v4: 2-206121981-G-A
MyVariant Identifiers: chr2:g.206986705G>A (hg19) chr2:g.206121981G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206121981G>A , CM000664.2:g.206121981G>A GRCh38
NC_000002.11:g.206986705G>A , CM000664.1:g.206986705G>A GRCh37
NC_000002.10:g.206694950G>A NCBI36
NG_009248.1:g.42483C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.*2204C>T MANE Select ENSP00000233190.5:n.*2204C>T
ENST00000233190.10:c.*2204C>T ENSP00000233190.5:n.*2204C>T
NM_001199981.2:c.*2204C>T NP_001186910.1:n.*2204C>T
NM_001199982.2:c.*2204C>T NP_001186911.1:n.*2204C>T
NM_001199983.2:c.*2204C>T NP_001186912.1:n.*2204C>T
NM_005006.7:c.*2204C>T MANE Select NP_004997.4:n.*2204C>T
NM_001199984.2:c.*2204C>T NP_001186913.1:n.*2204C>T
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