Canonical Allele Identifier: CA337845661

Gene: ATAD3A

Linked Data

• dbSNP Id: rs1342343954
• gnomAD v4: 1-1512344-C-T
• MyVariant Identifiers: chr1:g.1447724C>T (hg19) ; chr1:g.1512344C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1512344C>T , CM000663.2:g.1512344C>T	GRCh38
NC_000001.10:g.1447724C>T , CM000663.1:g.1447724C>T	GRCh37
NC_000001.9:g.1437587C>T	NCBI36
NG_053035.1:g.5202C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378756.8:c.76C>T MANE Select	ENSP00000368031.3:p.Gln26Ter
ENST00000672388.1:n.180C>T
ENST00000378755.9:c.76C>T	ENSP00000368030.5:p.Gln26Ter
ENST00000378756.7:c.76C>T	ENSP00000368031.3:p.Gln26Ter
NM_001170535.1:c.76C>T	NP_001164006.1:p.Gln26Ter
NM_018188.3:c.76C>T	NP_060658.3:p.Gln26Ter
NM_001170535.2:c.76C>T	NP_001164006.1:p.Gln26Ter
NM_018188.4:c.76C>T	NP_060658.3:p.Gln26Ter
XM_024448098.1:c.76C>T	XP_024303866.1:p.Gln26Ter
XR_001737282.1:n.202C>T
XR_002956997.1:n.202C>T
NM_001170535.3:c.76C>T MANE Select	NP_001164006.1:p.Gln26Ter
NM_018188.5:c.76C>T	NP_060658.3:p.Gln26Ter