Canonical Allele Identifier: CA2569533971

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206121967G>C , CM000664.2:g.206121967G>C	GRCh38
NC_000002.11:g.206986691G>C , CM000664.1:g.206986691G>C	GRCh37
NC_000002.10:g.206694936G>C	NCBI36
NG_009248.1:g.42497C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.*2218C>G MANE Select	ENSP00000233190.5:n.*2218C>G
ENST00000233190.10:c.*2218C>G	ENSP00000233190.5:n.*2218C>G
NM_001199981.2:c.*2218C>G	NP_001186910.1:n.*2218C>G
NM_001199982.2:c.*2218C>G	NP_001186911.1:n.*2218C>G
NM_001199983.2:c.*2218C>G	NP_001186912.1:n.*2218C>G
NM_005006.7:c.*2218C>G MANE Select	NP_004997.4:n.*2218C>G
NM_001199984.2:c.*2218C>G	NP_001186913.1:n.*2218C>G