Canonical Allele Identifier: CA16795138
Gene: ATAD3A HGNC NCBI

Linked Data

dbSNP Id: rs145324009
COSMIC: COSM110278
MyVariant Identifiers: chr1:g.1469331G>A (hg19) chr1:g.1533951G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1533951G>A , CM000663.2:g.1533951G>A GRCh38
NC_000001.10:g.1469331G>A , CM000663.1:g.1469331G>A GRCh37
NC_000001.9:g.1459194G>A NCBI36
NG_041807.1:g.11410C>T
NG_053035.1:g.26809G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000339113.9:c.1604G>A
ENST00000378756.8:c.1640G>A MANE Select ENSP00000368031.3:p.Gly547Glu
ENST00000400830.4:c.639G>A
ENST00000536055.6:c.1403G>A ENSP00000439290.1:p.Gly468Glu
ENST00000672388.1:n.1977G>A
ENST00000339113.8:c.1596G>A
ENST00000378755.9:c.1784G>A ENSP00000368030.5:p.Gly595Glu
ENST00000378756.7:c.1640G>A ENSP00000368031.3:p.Gly547Glu
ENST00000536055.5:c.1403G>A ENSP00000439290.1:p.Gly468Glu
NM_001170535.1:c.1640G>A NP_001164006.1:p.Gly547Glu
NM_001170536.1:c.1403G>A NP_001164007.1:p.Gly468Glu
NM_018188.3:c.1784G>A NP_060658.3:p.Gly595Glu
NM_001170535.2:c.1640G>A NP_001164006.1:p.Gly547Glu
NM_001170536.2:c.1403G>A NP_001164007.1:p.Gly468Glu
NM_018188.4:c.1784G>A NP_060658.3:p.Gly595Glu
XM_024448098.1:c.1718G>A XP_024303866.1:p.Gly573Glu
XR_001737282.1:n.1713G>A
XR_002956997.1:n.1791G>A
NM_001170535.3:c.1640G>A MANE Select NP_001164006.1:p.Gly547Glu
NM_018188.5:c.1784G>A NP_060658.3:p.Gly595Glu
NM_001170536.3:c.1403G>A NP_001164007.1:p.Gly468Glu
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