Canonical Allele Identifier: CA337845470
Gene: ATAD3A HGNC NCBI

Linked Data

dbSNP Id: rs1641220331
gnomAD v4: 1-1512323-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1512323C>T , CM000663.2:g.1512323C>T GRCh38
NC_000001.10:g.1447703C>T , CM000663.1:g.1447703C>T GRCh37
NC_000001.9:g.1437566C>T NCBI36
NG_053035.1:g.5181C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378756.8:c.55C>T MANE Select ENSP00000368031.3:p.Pro19Ser
ENST00000672388.1:n.159C>T
ENST00000378755.9:c.55C>T ENSP00000368030.5:p.Pro19Ser
ENST00000378756.7:c.55C>T ENSP00000368031.3:p.Pro19Ser
NM_001170535.1:c.55C>T NP_001164006.1:p.Pro19Ser
NM_018188.3:c.55C>T NP_060658.3:p.Pro19Ser
NM_001170535.2:c.55C>T NP_001164006.1:p.Pro19Ser
NM_018188.4:c.55C>T NP_060658.3:p.Pro19Ser
XM_024448098.1:c.55C>T XP_024303866.1:p.Pro19Ser
XR_001737282.1:n.181C>T
XR_002956997.1:n.181C>T
NM_001170535.3:c.55C>T MANE Select NP_001164006.1:p.Pro19Ser
NM_018188.5:c.55C>T NP_060658.3:p.Pro19Ser