Canonical Allele Identifier: CA1975673
Gene: ATP5MC3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.175179178T>C
GRCh37 chr2:g.176043906T>C
Revel Score:
ENST00000284727 (MANE Select) 0.073
ENST00000409194 0.073
ENST00000392541 0.073
gnomAD v2:
2:176043906 T / C
gnomAD v3:
2:175179178 T / C
gnomAD v4:
chr2-175179178-T-C
Joint Max Group AF 0.00716967 (EAS)
Genomes Max Group AF 0.00697442 (SAS)
Exomes Max Group AF 0.00731003 (EAS)
ClinVar RCV:
RCV003429377
RCV004364575
ClinVar Variation:
2651550
dbSNP:
36089250
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.175179178T>C , CM000664.2:g.175179178T>C GRCh38
NC_000002.11:g.176043906T>C , CM000664.1:g.176043906T>C GRCh37
NC_000002.10:g.175752152T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000284727.9:c.193A>G MANE Select ENSP00000284727.4:p.Ile65Val
ENST00000284727.8:c.193A>G ENSP00000284727.4:p.Ile65Val
ENST00000392541.3:c.193A>G ENSP00000376324.3:p.Ile65Val
ENST00000409194.5:c.193A>G ENSP00000387317.1:p.Ile65Val
ENST00000497075.5:n.321A>G
NM_001002258.4:c.193A>G NP_001002258.1:p.Ile65Val
NM_001190329.1:c.193A>G NP_001177258.1:p.Ile65Val
NM_001689.4:c.193A>G NP_001680.1:p.Ile65Val
XR_923595.1:n.1284+11243T>C
NM_001002258.5:c.193A>G NP_001002258.1:p.Ile65Val
NM_001190329.2:c.193A>G NP_001177258.1:p.Ile65Val
NM_001689.5:c.193A>G MANE Select NP_001680.1:p.Ile65Val
Search 100 bp 5'
Search 100 bp 3'