Canonical Allele Identifier: CA525584
Gene: ATAD3A HGNC NCBI

Linked Data

ClinVar Variation Id: 1675332
ClinVar RCV Id: RCV002211061 RCV003994409
dbSNP Id: rs201314162
ExAC: 1:1447667 A / G
gnomAD v2: 1-1447667-A-G
gnomAD v3: 1-1512287-A-G
gnomAD v4: 1-1512287-A-G
MyVariant Identifiers: chr1:g.1447667A>G (hg19) chr1:g.1512287A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1512287A>G , CM000663.2:g.1512287A>G GRCh38
NC_000001.10:g.1447667A>G , CM000663.1:g.1447667A>G GRCh37
NC_000001.9:g.1437530A>G NCBI36
NG_053035.1:g.5145A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378756.8:c.19A>G MANE Select ENSP00000368031.3:p.Ile7Val
ENST00000672388.1:n.123A>G
ENST00000378755.9:c.19A>G ENSP00000368030.5:p.Ile7Val
ENST00000378756.7:c.19A>G ENSP00000368031.3:p.Ile7Val
NM_001170535.1:c.19A>G NP_001164006.1:p.Ile7Val
NM_018188.3:c.19A>G NP_060658.3:p.Ile7Val
NM_001170535.2:c.19A>G NP_001164006.1:p.Ile7Val
NM_018188.4:c.19A>G NP_060658.3:p.Ile7Val
XM_024448098.1:c.19A>G XP_024303866.1:p.Ile7Val
XR_001737282.1:n.145A>G
XR_002956997.1:n.145A>G
NM_001170535.3:c.19A>G MANE Select NP_001164006.1:p.Ile7Val
NM_018188.5:c.19A>G NP_060658.3:p.Ile7Val
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