Canonical Allele Identifier: CA381876464
Community Standard Title: NM_030792.8(GDPD5):c.1255G>T (p.Ala419Ser)
Gene: GDPD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.75441716C>A , CM000673.2:g.75441716C>A GRCh38
NC_000011.9:g.75152761C>A , CM000673.1:g.75152761C>A GRCh37
NC_000011.8:g.74830409C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_030792.8:c.1255G>T MANE Select NP_110419.5:p.Ala419Ser
ENST00000336898.8:c.1255G>T MANE Select ENSP00000337972.3:p.Ala419Ser
NM_001351167.1:c.841G>T NP_001338096.1:p.Ala281Ser
NM_001351167.2:c.841G>T NP_001338096.1:p.Ala281Ser
NM_001351168.1:c.520G>T NP_001338097.1:p.Ala174Ser
NM_030792.6:c.1255G>T NP_110419.5:p.Ala419Ser
NM_030792.7:c.1255G>T NP_110419.5:p.Ala419Ser
ENST00000336898.7:c.1255G>T ENSP00000337972.3:p.Ala419Ser
ENST00000443276.6:c.*1153G>T ENSP00000396535.2:n.*1153G>T
ENST00000526177.5:c.841G>T ENSP00000434050.1:p.Ala281Ser
ENST00000527820.5:c.*1153G>T ENSP00000437123.1:n.*1153G>T
ENST00000529721.5:c.1255G>T ENSP00000433214.1:p.Ala419Ser
ENST00000531561.1:n.423G>T
ENST00000533784.5:c.898G>T ENSP00000437049.1:p.Ala300Ser
ENST00000533805.5:c.520G>T ENSP00000435196.1:p.Ala174Ser
ENST00000534322.1:c.7G>T ENSP00000435728.1:p.Ala3Ser
XM_006718697.2:c.1255G>T XP_006718760.1:p.Ala419Ser
XM_006718697.3:c.1255G>T XP_006718760.1:p.Ala419Ser
XM_011545275.1:c.1255G>T XP_011543577.1:p.Ala419Ser
XM_011545276.1:c.1255G>T XP_011543578.1:p.Ala419Ser
XM_011545276.2:c.1255G>T XP_011543578.1:p.Ala419Ser
XM_011545277.1:c.1255G>T XP_011543579.1:p.Ala419Ser
XM_011545277.2:c.1255G>T XP_011543579.1:p.Ala419Ser
XM_011545278.1:c.1255G>T XP_011543580.1:p.Ala419Ser
XM_011545278.2:c.1255G>T XP_011543580.1:p.Ala419Ser
XM_011545279.1:c.1255G>T XP_011543581.1:p.Ala419Ser
XM_011545279.2:c.1255G>T XP_011543581.1:p.Ala419Ser
XM_011545280.1:c.1084G>T XP_011543582.1:p.Ala362Ser
XM_011545281.1:c.841G>T XP_011543583.1:p.Ala281Ser
XM_011545281.2:c.841G>T XP_011543583.1:p.Ala281Ser
XM_011545282.1:c.841G>T XP_011543584.1:p.Ala281Ser
XM_011545283.1:c.841G>T XP_011543585.1:p.Ala281Ser
XM_011545284.1:c.841G>T XP_011543586.1:p.Ala281Ser
XM_011545285.1:c.841G>T XP_011543587.1:p.Ala281Ser
XM_011545286.1:c.520G>T XP_011543588.1:p.Ala174Ser
XM_011545287.1:c.520G>T XP_011543589.1:p.Ala174Ser