Canonical Allele Identifier: CA61214015
Gene: ATP5MC3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.175176702G>A
GRCh37 chr2:g.176041430G>A
gnomAD v2:
2:176041430 G / A
gnomAD v3:
2:175176702 G / A
gnomAD v4:
chr2-175176702-G-A
Joint Max Group AF 0.9935557 (NFE)
Genomes Max Group AF 0.99355557 (NFE)
Exomes Max Group AF 0.57701769 (NFE)
dbSNP:
185584
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.175176702G>A , CM000664.2:g.175176702G>A GRCh38
NC_000002.11:g.176041430G>A , CM000664.1:g.176041430G>A GRCh37
NC_000002.10:g.175749676G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000284727.9:c.*1586C>T MANE Select ENSP00000284727.4:n.*1586C>T
ENST00000284727.8:c.*1586C>T ENSP00000284727.4:n.*1586C>T
NM_001002258.4:c.*1586C>T NP_001002258.1:n.*1586C>T
NM_001190329.1:c.*2351C>T NP_001177258.1:n.*2351C>T
NM_001689.4:c.*1586C>T NP_001680.1:n.*1586C>T
XR_923595.1:n.1284+8767G>A
NM_001002258.5:c.*1586C>T NP_001002258.1:n.*1586C>T
NM_001190329.2:c.*2351C>T NP_001177258.1:n.*2351C>T
NM_001689.5:c.*1586C>T MANE Select NP_001680.1:n.*1586C>T
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