Canonical Allele Identifier: CA337845594

Gene: ATAD3A

Linked Data

• ClinVar Variation Id: 1723099
• ClinVar RCV Id: RCV002306206
• dbSNP Id: rs1641221082
• gnomAD v4: 1-1512338-C-T
• MyVariant Identifiers: chr1:g.1447718C>T (hg19) ; chr1:g.1512338C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1512338C>T , CM000663.2:g.1512338C>T	GRCh38
NC_000001.10:g.1447718C>T , CM000663.1:g.1447718C>T	GRCh37
NC_000001.9:g.1437581C>T	NCBI36
NG_053035.1:g.5196C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378756.8:c.70C>T MANE Select	ENSP00000368031.3:p.Pro24Ser
ENST00000672388.1:n.174C>T
ENST00000378755.9:c.70C>T	ENSP00000368030.5:p.Pro24Ser
ENST00000378756.7:c.70C>T	ENSP00000368031.3:p.Pro24Ser
NM_001170535.1:c.70C>T	NP_001164006.1:p.Pro24Ser
NM_018188.3:c.70C>T	NP_060658.3:p.Pro24Ser
NM_001170535.2:c.70C>T	NP_001164006.1:p.Pro24Ser
NM_018188.4:c.70C>T	NP_060658.3:p.Pro24Ser
XM_024448098.1:c.70C>T	XP_024303866.1:p.Pro24Ser
XR_001737282.1:n.196C>T
XR_002956997.1:n.196C>T
NM_001170535.3:c.70C>T MANE Select	NP_001164006.1:p.Pro24Ser
NM_018188.5:c.70C>T	NP_060658.3:p.Pro24Ser