Canonical Allele Identifier: CA526549

Gene: ATAD3A

Linked Data

• ClinVar Variation Id: 522903
• ClinVar RCV Id: RCV000626097 ; RCV002529773 ; RCV003411479
• dbSNP Id: rs200344678
• ExAC: 1:1469384 C / T
• gnomAD v2: 1-1469384-C-T
• gnomAD v3: 1-1534004-C-T
• gnomAD v4: 1-1534004-C-T
• MyVariant Identifiers: chr1:g.1469384C>T (hg19) ; chr1:g.1534004C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1534004C>T , CM000663.2:g.1534004C>T	GRCh38
NC_000001.10:g.1469384C>T , CM000663.1:g.1469384C>T	GRCh37
NC_000001.9:g.1459247C>T	NCBI36
NG_041807.1:g.11357G>A
NG_053035.1:g.26862C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339113.9:c.1657C>T
ENST00000378756.8:c.1693C>T MANE Select	ENSP00000368031.3:p.His565Tyr
ENST00000400830.4:c.692C>T
ENST00000536055.6:c.1456C>T	ENSP00000439290.1:p.His486Tyr
ENST00000672388.1:n.2030C>T
ENST00000339113.8:c.1649C>T
ENST00000378755.9:c.1837C>T	ENSP00000368030.5:p.His613Tyr
ENST00000378756.7:c.1693C>T	ENSP00000368031.3:p.His565Tyr
ENST00000536055.5:c.1456C>T	ENSP00000439290.1:p.His486Tyr
NM_001170535.1:c.1693C>T	NP_001164006.1:p.His565Tyr
NM_001170536.1:c.1456C>T	NP_001164007.1:p.His486Tyr
NM_018188.3:c.1837C>T	NP_060658.3:p.His613Tyr
NM_001170535.2:c.1693C>T	NP_001164006.1:p.His565Tyr
NM_001170536.2:c.1456C>T	NP_001164007.1:p.His486Tyr
NM_018188.4:c.1837C>T	NP_060658.3:p.His613Tyr
XM_024448098.1:c.1771C>T	XP_024303866.1:p.His591Tyr
XR_001737282.1:n.1766C>T
XR_002956997.1:n.1844C>T
NM_001170535.3:c.1693C>T MANE Select	NP_001164006.1:p.His565Tyr
NM_018188.5:c.1837C>T	NP_060658.3:p.His613Tyr
NM_001170536.3:c.1456C>T	NP_001164007.1:p.His486Tyr