Canonical Allele Identifier: CA16040614

Gene: ATAD3A

Linked Data

• ClinVar Variation Id: 225696
• ClinVar RCV Id: RCV000412539 ; RCV000488909
• dbSNP Id: rs1057517686
• MyVariant Identifiers: chr1:g.1464679C>T (hg19) ; chr1:g.1529299C>T (hg38)
• PubMed: PMID:27640307

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1529299C>T , CM000663.2:g.1529299C>T	GRCh38
NC_000001.10:g.1464679C>T , CM000663.1:g.1464679C>T	GRCh37
NC_000001.9:g.1454542C>T	NCBI36
NG_053035.1:g.22157C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339113.9:c.1546C>T
ENST00000378756.8:c.1582C>T MANE Select	ENSP00000368031.3:p.Arg528Trp
ENST00000400830.4:c.581C>T
ENST00000536055.6:c.1345C>T	ENSP00000439290.1:p.Arg449Trp
ENST00000672388.1:n.1919C>T
ENST00000339113.8:c.1538C>T
ENST00000378755.9:c.1726C>T	ENSP00000368030.5:p.Arg576Trp
ENST00000378756.7:c.1582C>T	ENSP00000368031.3:p.Arg528Trp
ENST00000400830.3:c.571C>T	ENSP00000383631.3:p.Arg191Trp
ENST00000536055.5:c.1345C>T	ENSP00000439290.1:p.Arg449Trp
NM_001170535.1:c.1582C>T	NP_001164006.1:p.Arg528Trp
NM_001170536.1:c.1345C>T	NP_001164007.1:p.Arg449Trp
NM_018188.3:c.1726C>T	NP_060658.3:p.Arg576Trp
NM_001170535.2:c.1582C>T	NP_001164006.1:p.Arg528Trp
NM_001170536.2:c.1345C>T	NP_001164007.1:p.Arg449Trp
NM_018188.4:c.1726C>T	NP_060658.3:p.Arg576Trp
XM_024448098.1:c.1660C>T	XP_024303866.1:p.Arg554Trp
XR_001737282.1:n.1655C>T
XR_002956997.1:n.1733C>T
NM_001170535.3:c.1582C>T MANE Select	NP_001164006.1:p.Arg528Trp
NM_018188.5:c.1726C>T	NP_060658.3:p.Arg576Trp
NM_001170536.3:c.1345C>T	NP_001164007.1:p.Arg449Trp