Canonical Allele Identifier: CA526023
Community Standard Title: NM_001170535.3(ATAD3A):c.882T>G (p.Leu294=)
Gene: ATAD3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1522875T>G , CM000663.2:g.1522875T>G GRCh38
NC_000001.10:g.1458255T>G , CM000663.1:g.1458255T>G GRCh37
NC_000001.9:g.1448118T>G NCBI36
NG_053035.1:g.15733T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001170535.3:c.882T>G MANE Select NP_001164006.1:p.Leu294=
ENST00000378756.8:c.882T>G MANE Select ENSP00000368031.3:p.Leu294=
NM_001170535.1:c.882T>G NP_001164006.1:p.Leu294=
NM_001170535.2:c.882T>G NP_001164006.1:p.Leu294=
NM_001170536.1:c.645T>G NP_001164007.1:p.Leu215=
NM_001170536.2:c.645T>G NP_001164007.1:p.Leu215=
NM_001170536.3:c.645T>G NP_001164007.1:p.Leu215=
NM_018188.3:c.1026T>G NP_060658.3:p.Leu342=
NM_018188.4:c.1026T>G NP_060658.3:p.Leu342=
NM_018188.5:c.1026T>G NP_060658.3:p.Leu342=
ENST00000339113.8:c.838T>G
ENST00000339113.9:c.846T>G
ENST00000378755.9:c.1026T>G ENSP00000368030.5:p.Leu342=
ENST00000378756.7:c.882T>G ENSP00000368031.3:p.Leu294=
ENST00000536055.5:c.645T>G ENSP00000439290.1:p.Leu215=
ENST00000536055.6:c.645T>G ENSP00000439290.1:p.Leu215=
ENST00000672388.1:n.1219T>G
XM_024448098.1:c.882T>G XP_024303866.1:p.Leu294=
XR_001737282.1:n.1008T>G
XR_002956997.1:n.1008T>G