Canonical Allele Identifier: CA16777125
Community Standard Title: NM_001170535.3(ATAD3A):c.131A>G (p.Lys44Arg)
Gene: ATAD3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1512399A>G , CM000663.2:g.1512399A>G GRCh38
NC_000001.10:g.1447779A>G , CM000663.1:g.1447779A>G GRCh37
NC_000001.9:g.1437642A>G NCBI36
NG_053035.1:g.5257A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001170535.3:c.131A>G MANE Select NP_001164006.1:p.Lys44Arg
ENST00000378756.8:c.131A>G MANE Select ENSP00000368031.3:p.Lys44Arg
NM_001170535.1:c.131A>G NP_001164006.1:p.Lys44Arg
NM_001170535.2:c.131A>G NP_001164006.1:p.Lys44Arg
NM_018188.3:c.131A>G NP_060658.3:p.Lys44Arg
NM_018188.4:c.131A>G NP_060658.3:p.Lys44Arg
NM_018188.5:c.131A>G NP_060658.3:p.Lys44Arg
ENST00000339113.9:c.15A>G
ENST00000378755.9:c.131A>G ENSP00000368030.5:p.Lys44Arg
ENST00000378756.7:c.131A>G ENSP00000368031.3:p.Lys44Arg
ENST00000672388.1:n.235A>G
XM_024448098.1:c.131A>G XP_024303866.1:p.Lys44Arg
XR_001737282.1:n.257A>G
XR_002956997.1:n.257A>G