Canonical Allele Identifier: CA337845572

Gene: ATAD3A

Linked Data

• gnomAD v4: 1-1512335-C-A
• MyVariant Identifiers: chr1:g.1447715C>A (hg19) ; chr1:g.1512335C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1512335C>A , CM000663.2:g.1512335C>A	GRCh38
NC_000001.10:g.1447715C>A , CM000663.1:g.1447715C>A	GRCh37
NC_000001.9:g.1437578C>A	NCBI36
NG_053035.1:g.5193C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378756.8:c.67C>A MANE Select	ENSP00000368031.3:p.Pro23Thr
ENST00000672388.1:n.171C>A
ENST00000378755.9:c.67C>A	ENSP00000368030.5:p.Pro23Thr
ENST00000378756.7:c.67C>A	ENSP00000368031.3:p.Pro23Thr
NM_001170535.1:c.67C>A	NP_001164006.1:p.Pro23Thr
NM_018188.3:c.67C>A	NP_060658.3:p.Pro23Thr
NM_001170535.2:c.67C>A	NP_001164006.1:p.Pro23Thr
NM_018188.4:c.67C>A	NP_060658.3:p.Pro23Thr
XM_024448098.1:c.67C>A	XP_024303866.1:p.Pro23Thr
XR_001737282.1:n.193C>A
XR_002956997.1:n.193C>A
NM_001170535.3:c.67C>A MANE Select	NP_001164006.1:p.Pro23Thr
NM_018188.5:c.67C>A	NP_060658.3:p.Pro23Thr