Canonical Allele Identifier: CA525640

Gene: ATAD3A

Linked Data

• ClinVar Variation Id: 432628
• ClinVar RCV Id: RCV000498349 ; RCV001249364 ; RCV002489219 ; RCV004023340
• dbSNP Id: rs138594222
• ExAC: 1:1451415 C / G
• gnomAD v2: 1-1451415-C-G
• gnomAD v3: 1-1516035-C-G
• gnomAD v4: 1-1516035-C-G
• COSMIC: COSM238876
• MyVariant Identifiers: chr1:g.1451415C>G (hg19) ; chr1:g.1516035C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1516035C>G , CM000663.2:g.1516035C>G	GRCh38
NC_000001.10:g.1451415C>G , CM000663.1:g.1451415C>G	GRCh37
NC_000001.9:g.1441278C>G	NCBI36
NG_053035.1:g.8893C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339113.9:c.113C>G
ENST00000378756.8:c.229C>G MANE Select	ENSP00000368031.3:p.Leu77Val
ENST00000536055.6:c.-9C>G	ENSP00000439290.1:n.-9C>G
ENST00000672388.1:n.333C>G
ENST00000339113.8:c.185C>G
ENST00000378755.9:c.229C>G	ENSP00000368030.5:p.Leu77Val
ENST00000378756.7:c.229C>G	ENSP00000368031.3:p.Leu77Val
ENST00000536055.5:c.-9C>G	ENSP00000439290.1:n.-9C>G
NM_001170535.1:c.229C>G	NP_001164006.1:p.Leu77Val
NM_001170536.1:c.-9C>G	NP_001164007.1:n.-9C>G
NM_018188.3:c.229C>G	NP_060658.3:p.Leu77Val
NM_001170535.2:c.229C>G	NP_001164006.1:p.Leu77Val
NM_001170536.2:c.-9C>G	NP_001164007.1:n.-9C>G
NM_018188.4:c.229C>G	NP_060658.3:p.Leu77Val
XM_024448098.1:c.229C>G	XP_024303866.1:p.Leu77Val
XR_001737282.1:n.355C>G
XR_002956997.1:n.355C>G
NM_001170535.3:c.229C>G MANE Select	NP_001164006.1:p.Leu77Val
NM_018188.5:c.229C>G	NP_060658.3:p.Leu77Val
NM_001170536.3:c.-9C>G	NP_001164007.1:n.-9C>G