Canonical Allele Identifier: CA525580

Gene: ATAD3A

Linked Data

• ClinVar Variation Id: 1710696
• ClinVar RCV Id: RCV002291983
• dbSNP Id: rs762349361
• ExAC: 1:1447650 T / A
• gnomAD v2: 1-1447650-T-A
• gnomAD v3: 1-1512270-T-A
• gnomAD v4: 1-1512270-T-A
• MyVariant Identifiers: chr1:g.1447650T>A (hg19) ; chr1:g.1512270T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1512270T>A , CM000663.2:g.1512270T>A	GRCh38
NC_000001.10:g.1447650T>A , CM000663.1:g.1447650T>A	GRCh37
NC_000001.9:g.1437513T>A	NCBI36
NG_053035.1:g.5128T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378756.8:c.2T>A MANE Select	ENSP00000368031.3:p.Met1Lys
ENST00000672388.1:n.106T>A
ENST00000378755.9:c.2T>A	ENSP00000368030.5:p.Met1Lys
ENST00000378756.7:c.2T>A	ENSP00000368031.3:p.Met1Lys
NM_001170535.1:c.2T>A	NP_001164006.1:p.Met1Lys
NM_018188.3:c.2T>A	NP_060658.3:p.Met1Lys
NM_001170535.2:c.2T>A	NP_001164006.1:p.Met1Lys
NM_018188.4:c.2T>A	NP_060658.3:p.Met1Lys
XM_024448098.1:c.2T>A	XP_024303866.1:p.Met1Lys
XR_001737282.1:n.128T>A
XR_002956997.1:n.128T>A
NM_001170535.3:c.2T>A MANE Select	NP_001164006.1:p.Met1Lys
NM_018188.5:c.2T>A	NP_060658.3:p.Met1Lys