Canonical Allele Identifier: CA2496476374
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206122039G= , CM000664.2:g.206122039G= GRCh38
NC_000002.11:g.206986763G= , CM000664.1:g.206986763G= GRCh37
NC_000002.10:g.206695008G= NCBI36
NG_009248.1:g.42425C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.*2146C= MANE Select ENSP00000233190.5:n.*2146C=
ENST00000233190.10:c.*2146C= ENSP00000233190.5:n.*2146C=
NM_001199981.2:c.*2146C= NP_001186910.1:n.*2146C=
NM_001199982.2:c.*2146C= NP_001186911.1:n.*2146C=
NM_001199983.2:c.*2146C= NP_001186912.1:n.*2146C=
NM_005006.7:c.*2146C= MANE Select NP_004997.4:n.*2146C=
NM_001199984.2:c.*2146C= NP_001186913.1:n.*2146C=