Canonical Allele Identifier: CA475717324
Community Standard Title: NM_030792.8(GDPD5):c.1251A>C (p.Ala417=)
Gene: GDPD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.75441720T>G , CM000673.2:g.75441720T>G GRCh38
NC_000011.9:g.75152765T>G , CM000673.1:g.75152765T>G GRCh37
NC_000011.8:g.74830413T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_030792.8:c.1251A>C MANE Select NP_110419.5:p.Ala417=
ENST00000336898.8:c.1251A>C MANE Select ENSP00000337972.3:p.Ala417=
NM_001351167.1:c.837A>C NP_001338096.1:p.Ala279=
NM_001351167.2:c.837A>C NP_001338096.1:p.Ala279=
NM_001351168.1:c.516A>C NP_001338097.1:p.Ala172=
NM_030792.6:c.1251A>C NP_110419.5:p.Ala417=
NM_030792.7:c.1251A>C NP_110419.5:p.Ala417=
ENST00000336898.7:c.1251A>C ENSP00000337972.3:p.Ala417=
ENST00000443276.6:c.*1149A>C ENSP00000396535.2:n.*1149A>C
ENST00000526177.5:c.837A>C ENSP00000434050.1:p.Ala279=
ENST00000527820.5:c.*1149A>C ENSP00000437123.1:n.*1149A>C
ENST00000529721.5:c.1251A>C ENSP00000433214.1:p.Ala417=
ENST00000531561.1:n.419A>C
ENST00000533784.5:c.894A>C ENSP00000437049.1:p.Ala298=
ENST00000533805.5:c.516A>C ENSP00000435196.1:p.Ala172=
ENST00000534322.1:c.3A>C ENSP00000435728.1:p.Ala1=
XM_006718697.2:c.1251A>C XP_006718760.1:p.Ala417=
XM_006718697.3:c.1251A>C XP_006718760.1:p.Ala417=
XM_011545275.1:c.1251A>C XP_011543577.1:p.Ala417=
XM_011545276.1:c.1251A>C XP_011543578.1:p.Ala417=
XM_011545276.2:c.1251A>C XP_011543578.1:p.Ala417=
XM_011545277.1:c.1251A>C XP_011543579.1:p.Ala417=
XM_011545277.2:c.1251A>C XP_011543579.1:p.Ala417=
XM_011545278.1:c.1251A>C XP_011543580.1:p.Ala417=
XM_011545278.2:c.1251A>C XP_011543580.1:p.Ala417=
XM_011545279.1:c.1251A>C XP_011543581.1:p.Ala417=
XM_011545279.2:c.1251A>C XP_011543581.1:p.Ala417=
XM_011545280.1:c.1080A>C XP_011543582.1:p.Ala360=
XM_011545281.1:c.837A>C XP_011543583.1:p.Ala279=
XM_011545281.2:c.837A>C XP_011543583.1:p.Ala279=
XM_011545282.1:c.837A>C XP_011543584.1:p.Ala279=
XM_011545283.1:c.837A>C XP_011543585.1:p.Ala279=
XM_011545284.1:c.837A>C XP_011543586.1:p.Ala279=
XM_011545285.1:c.837A>C XP_011543587.1:p.Ala279=
XM_011545286.1:c.516A>C XP_011543588.1:p.Ala172=
XM_011545287.1:c.516A>C XP_011543589.1:p.Ala172=