Canonical Allele Identifier: CA63644664
Gene: NDUFS1 HGNC NCBI

Linked Data

dbSNP Id: rs990295659
MyVariant Identifiers: chr2:g.206986915T>G (hg19) chr2:g.206122191T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206122191T>G , CM000664.2:g.206122191T>G GRCh38
NC_000002.11:g.206986915T>G , CM000664.1:g.206986915T>G GRCh37
NC_000002.10:g.206695160T>G NCBI36
NG_009248.1:g.42273A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000233190.11:c.*1994A>C MANE Select ENSP00000233190.5:n.*1994A>C
ENST00000233190.10:c.*1994A>C ENSP00000233190.5:n.*1994A>C
NM_001199981.2:c.*1994A>C NP_001186910.1:n.*1994A>C
NM_001199982.2:c.*1994A>C NP_001186911.1:n.*1994A>C
NM_001199983.2:c.*1994A>C NP_001186912.1:n.*1994A>C
NM_005006.7:c.*1994A>C MANE Select NP_004997.4:n.*1994A>C
NM_001199984.2:c.*1994A>C NP_001186913.1:n.*1994A>C
Search 100 bp 5'
Search 100 bp 3'