Canonical Allele Identifier: CA430940144
Gene: NDUFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.206986971T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206122247T>A , CM000664.2:g.206122247T>A GRCh38
NC_000002.11:g.206986971T>A , CM000664.1:g.206986971T>A GRCh37
NC_000002.10:g.206695216T>A NCBI36
NG_009248.1:g.42217A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.*1938A>T MANE Select ENSP00000233190.5:n.*1938A>T
ENST00000233190.10:c.*1938A>T ENSP00000233190.5:n.*1938A>T
NM_001199981.2:c.*1938A>T NP_001186910.1:n.*1938A>T
NM_001199982.2:c.*1938A>T NP_001186911.1:n.*1938A>T
NM_001199983.2:c.*1938A>T NP_001186912.1:n.*1938A>T
NM_005006.7:c.*1938A>T MANE Select NP_004997.4:n.*1938A>T
NM_001199984.2:c.*1938A>T NP_001186913.1:n.*1938A>T