Canonical Allele Identifier: CA526087
Community Standard Title: NM_001170535.3(ATAD3A):c.950G>C (p.Gly317Ala)
Gene: ATAD3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1523554G>C , CM000663.2:g.1523554G>C GRCh38
NC_000001.10:g.1458934G>C , CM000663.1:g.1458934G>C GRCh37
NC_000001.9:g.1448797G>C NCBI36
NG_053035.1:g.16412G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001170535.3:c.950G>C MANE Select NP_001164006.1:p.Gly317Ala
ENST00000378756.8:c.950G>C MANE Select ENSP00000368031.3:p.Gly317Ala
NM_001170535.1:c.950G>C NP_001164006.1:p.Gly317Ala
NM_001170535.2:c.950G>C NP_001164006.1:p.Gly317Ala
NM_001170536.1:c.713G>C NP_001164007.1:p.Gly238Ala
NM_001170536.2:c.713G>C NP_001164007.1:p.Gly238Ala
NM_001170536.3:c.713G>C NP_001164007.1:p.Gly238Ala
NM_018188.3:c.1094G>C NP_060658.3:p.Gly365Ala
NM_018188.4:c.1094G>C NP_060658.3:p.Gly365Ala
NM_018188.5:c.1094G>C NP_060658.3:p.Gly365Ala
ENST00000339113.8:c.906G>C
ENST00000339113.9:c.914G>C
ENST00000378755.9:c.1094G>C ENSP00000368030.5:p.Gly365Ala
ENST00000378756.7:c.950G>C ENSP00000368031.3:p.Gly317Ala
ENST00000536055.5:c.713G>C ENSP00000439290.1:p.Gly238Ala
ENST00000536055.6:c.713G>C ENSP00000439290.1:p.Gly238Ala
ENST00000672388.1:n.1287G>C
XM_024448098.1:c.950G>C XP_024303866.1:p.Gly317Ala
XR_001737282.1:n.1076G>C
XR_002956997.1:n.1076G>C