Canonical Allele Identifier: CA6190341
Gene: GDPD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.75443206G>A , CM000673.2:g.75443206G>A GRCh38
NC_000011.9:g.75154251G>A , CM000673.1:g.75154251G>A GRCh37
NC_000011.8:g.74831899G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336898.8:c.878C>T MANE Select ENSP00000337972.3:p.Ala293Val
ENST00000336898.7:c.878C>T ENSP00000337972.3:p.Ala293Val
ENST00000443276.6:c.*776C>T ENSP00000396535.2:n.*776C>T
ENST00000526177.5:c.464C>T ENSP00000434050.1:p.Ala155Val
ENST00000527322.5:n.558C>T
ENST00000527820.5:c.*776C>T ENSP00000437123.1:n.*776C>T
ENST00000529721.5:c.878C>T ENSP00000433214.1:p.Ala293Val
ENST00000533784.5:c.521C>T ENSP00000437049.1:p.Ala174Val
ENST00000533805.5:c.143C>T ENSP00000435196.1:p.Ala48Val
ENST00000533911.1:n.460C>T
NM_030792.6:c.878C>T NP_110419.5:p.Ala293Val
XM_006718697.2:c.878C>T XP_006718760.1:p.Ala293Val
XM_011545275.1:c.878C>T XP_011543577.1:p.Ala293Val
XM_011545276.1:c.878C>T XP_011543578.1:p.Ala293Val
XM_011545277.1:c.878C>T XP_011543579.1:p.Ala293Val
XM_011545278.1:c.878C>T XP_011543580.1:p.Ala293Val
XM_011545279.1:c.878C>T XP_011543581.1:p.Ala293Val
XM_011545280.1:c.707C>T XP_011543582.1:p.Ala236Val
XM_011545281.1:c.464C>T XP_011543583.1:p.Ala155Val
XM_011545282.1:c.464C>T XP_011543584.1:p.Ala155Val
XM_011545283.1:c.464C>T XP_011543585.1:p.Ala155Val
XM_011545284.1:c.464C>T XP_011543586.1:p.Ala155Val
XM_011545285.1:c.464C>T XP_011543587.1:p.Ala155Val
XM_011545286.1:c.143C>T XP_011543588.1:p.Ala48Val
XM_011545287.1:c.143C>T XP_011543589.1:p.Ala48Val
NM_001351167.1:c.464C>T NP_001338096.1:p.Ala155Val
NM_001351168.1:c.143C>T NP_001338097.1:p.Ala48Val
NM_030792.7:c.878C>T NP_110419.5:p.Ala293Val
XM_006718697.3:c.878C>T XP_006718760.1:p.Ala293Val
XM_011545276.2:c.878C>T XP_011543578.1:p.Ala293Val
XM_011545277.2:c.878C>T XP_011543579.1:p.Ala293Val
XM_011545278.2:c.878C>T XP_011543580.1:p.Ala293Val
XM_011545279.2:c.878C>T XP_011543581.1:p.Ala293Val
XM_011545281.2:c.464C>T XP_011543583.1:p.Ala155Val
NM_030792.8:c.878C>T MANE Select NP_110419.5:p.Ala293Val
NM_001351167.2:c.464C>T NP_001338096.1:p.Ala155Val