Canonical Allele Identifier: CA430939834
Gene: NDUFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.206986916C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206122192C>T , CM000664.2:g.206122192C>T GRCh38
NC_000002.11:g.206986916C>T , CM000664.1:g.206986916C>T GRCh37
NC_000002.10:g.206695161C>T NCBI36
NG_009248.1:g.42272G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000233190.11:c.*1993G>A MANE Select ENSP00000233190.5:n.*1993G>A
ENST00000233190.10:c.*1993G>A ENSP00000233190.5:n.*1993G>A
NM_001199981.2:c.*1993G>A NP_001186910.1:n.*1993G>A
NM_001199982.2:c.*1993G>A NP_001186911.1:n.*1993G>A
NM_001199983.2:c.*1993G>A NP_001186912.1:n.*1993G>A
NM_005006.7:c.*1993G>A MANE Select NP_004997.4:n.*1993G>A
NM_001199984.2:c.*1993G>A NP_001186913.1:n.*1993G>A