Canonical Allele Identifier: CA337846702

Gene: ATAD3A

Linked Data

• gnomAD v4: 1-1512446-A-C
• MyVariant Identifiers: chr1:g.1447826A>C (hg19) ; chr1:g.1512446A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1512446A>C , CM000663.2:g.1512446A>C	GRCh38
NC_000001.10:g.1447826A>C , CM000663.1:g.1447826A>C	GRCh37
NC_000001.9:g.1437689A>C	NCBI36
NG_053035.1:g.5304A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339113.9:c.62A>C
ENST00000378756.8:c.178A>C MANE Select	ENSP00000368031.3:p.Lys60Gln
ENST00000672388.1:n.282A>C
ENST00000378755.9:c.178A>C	ENSP00000368030.5:p.Lys60Gln
ENST00000378756.7:c.178A>C	ENSP00000368031.3:p.Lys60Gln
NM_001170535.1:c.178A>C	NP_001164006.1:p.Lys60Gln
NM_018188.3:c.178A>C	NP_060658.3:p.Lys60Gln
NM_001170535.2:c.178A>C	NP_001164006.1:p.Lys60Gln
NM_018188.4:c.178A>C	NP_060658.3:p.Lys60Gln
XM_024448098.1:c.178A>C	XP_024303866.1:p.Lys60Gln
XR_001737282.1:n.304A>C
XR_002956997.1:n.304A>C
NM_001170535.3:c.178A>C MANE Select	NP_001164006.1:p.Lys60Gln
NM_018188.5:c.178A>C	NP_060658.3:p.Lys60Gln