Canonical Allele Identifier: CA16040615
Gene: ATAD3A HGNC NCBI

Linked Data

ClinVar Variation Id: 225697
dbSNP Id: rs1057517687
gnomAD v4: 1-1512426-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1512426C>T , CM000663.2:g.1512426C>T GRCh38
NC_000001.10:g.1447806C>T , CM000663.1:g.1447806C>T GRCh37
NC_000001.9:g.1437669C>T NCBI36
NG_053035.1:g.5284C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000339113.9:c.42C>T
ENST00000378756.8:c.158C>T MANE Select ENSP00000368031.3:p.Thr53Ile
ENST00000672388.1:n.262C>T
ENST00000378755.9:c.158C>T ENSP00000368030.5:p.Thr53Ile
ENST00000378756.7:c.158C>T ENSP00000368031.3:p.Thr53Ile
NM_001170535.1:c.158C>T NP_001164006.1:p.Thr53Ile
NM_018188.3:c.158C>T NP_060658.3:p.Thr53Ile
NM_001170535.2:c.158C>T NP_001164006.1:p.Thr53Ile
NM_018188.4:c.158C>T NP_060658.3:p.Thr53Ile
XM_024448098.1:c.158C>T XP_024303866.1:p.Thr53Ile
XR_001737282.1:n.284C>T
XR_002956997.1:n.284C>T
NM_001170535.3:c.158C>T MANE Select NP_001164006.1:p.Thr53Ile
NM_018188.5:c.158C>T NP_060658.3:p.Thr53Ile