Canonical Allele Identifier: CA13058012
Gene: NDUFA8 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.122144444T>C
GRCh37 chr9:g.124906723T>C
gnomAD v2:
9:124906723 T / C
gnomAD v3:
9:122144444 T / C
gnomAD v4:
chr9-122144444-T-C
Joint Max Group AF 0.82520214 (AFR)
Genomes Max Group AF 0.82174217 (AFR)
Exomes Max Group AF 0.82450736 (AFR)
dbSNP:
3818638
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.122144444T>C , CM000671.2:g.122144444T>C GRCh38
NC_000009.11:g.124906723T>C , CM000671.1:g.124906723T>C GRCh37
NC_000009.10:g.123946544T>C NCBI36
NG_042279.1:g.20376A>G
NG_042279.2:g.20376A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373768.4:c.382-66A>G MANE Select ENSP00000362873.3:n.382-66A>G
ENST00000373768.3:c.382-66A>G ENSP00000362873.3:n.382-66A>G
NM_014222.2:c.382-66A>G NP_055037.1:n.382-66A>G
XM_005251998.2:c.381+3668A>G XP_005252055.1:n.381+3668A>G
NM_001318195.1:c.381+3668A>G NP_001305124.1:n.381+3668A>G
NM_014222.3:c.382-66A>G MANE Select NP_055037.1:n.382-66A>G
NM_001318195.2:c.381+3668A>G NP_001305124.1:n.381+3668A>G
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