Canonical Allele Identifier: CA224665732

Gene: GDPD5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.75462826A>G , CM000673.2:g.75462826A>G	GRCh38
NC_000011.9:g.75173871A>G , CM000673.1:g.75173871A>G	GRCh37
NC_000011.8:g.74851519A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336898.8:c.181T>C MANE Select	ENSP00000337972.3:p.Phe61Leu
ENST00000336898.7:c.181T>C	ENSP00000337972.3:p.Phe61Leu
ENST00000443276.6:c.181T>C	ENSP00000396535.2:p.Phe61Leu
ENST00000527820.5:c.181T>C	ENSP00000437123.1:p.Phe61Leu
ENST00000528031.1:n.315T>C
ENST00000529721.5:c.181T>C	ENSP00000433214.1:p.Phe61Leu
ENST00000532435.5:c.181T>C	ENSP00000433727.1:p.Phe61Leu
ENST00000533784.5:c.118-13216T>C	ENSP00000437049.1:n.118-13216T>C
NM_030792.6:c.181T>C	NP_110419.5:p.Phe61Leu
XM_006718697.2:c.181T>C	XP_006718760.1:p.Phe61Leu
XM_011545275.1:c.181T>C	XP_011543577.1:p.Phe61Leu
XM_011545276.1:c.181T>C	XP_011543578.1:p.Phe61Leu
XM_011545277.1:c.181T>C	XP_011543579.1:p.Phe61Leu
XM_011545278.1:c.181T>C	XP_011543580.1:p.Phe61Leu
XM_011545279.1:c.181T>C	XP_011543581.1:p.Phe61Leu
XM_011545280.1:c.-146T>C	XP_011543582.1:n.-146T>C
NM_001351168.1:c.-713T>C	NP_001338097.1:n.-713T>C
NM_030792.7:c.181T>C	NP_110419.5:p.Phe61Leu
XM_006718697.3:c.181T>C	XP_006718760.1:p.Phe61Leu
XM_011545276.2:c.181T>C	XP_011543578.1:p.Phe61Leu
XM_011545277.2:c.181T>C	XP_011543579.1:p.Phe61Leu
XM_011545278.2:c.181T>C	XP_011543580.1:p.Phe61Leu
XM_011545279.2:c.181T>C	XP_011543581.1:p.Phe61Leu
NM_030792.8:c.181T>C MANE Select	NP_110419.5:p.Phe61Leu