Canonical Allele Identifier: CA337844970

Gene: ATAD3A

Linked Data

• gnomAD v4: 1-1512273-C-A
• MyVariant Identifiers: chr1:g.1447653C>A (hg19) ; chr1:g.1512273C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1512273C>A , CM000663.2:g.1512273C>A	GRCh38
NC_000001.10:g.1447653C>A , CM000663.1:g.1447653C>A	GRCh37
NC_000001.9:g.1437516C>A	NCBI36
NG_053035.1:g.5131C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378756.8:c.5C>A MANE Select	ENSP00000368031.3:p.Ser2Ter
ENST00000672388.1:n.109C>A
ENST00000378755.9:c.5C>A	ENSP00000368030.5:p.Ser2Ter
ENST00000378756.7:c.5C>A	ENSP00000368031.3:p.Ser2Ter
NM_001170535.1:c.5C>A	NP_001164006.1:p.Ser2Ter
NM_018188.3:c.5C>A	NP_060658.3:p.Ser2Ter
NM_001170535.2:c.5C>A	NP_001164006.1:p.Ser2Ter
NM_018188.4:c.5C>A	NP_060658.3:p.Ser2Ter
XM_024448098.1:c.5C>A	XP_024303866.1:p.Ser2Ter
XR_001737282.1:n.131C>A
XR_002956997.1:n.131C>A
NM_001170535.3:c.5C>A MANE Select	NP_001164006.1:p.Ser2Ter
NM_018188.5:c.5C>A	NP_060658.3:p.Ser2Ter