Canonical Allele Identifier: CA6190088

Gene: GDPD5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.75437043C>T , CM000673.2:g.75437043C>T	GRCh38
NC_000011.9:g.75148088C>T , CM000673.1:g.75148088C>T	GRCh37
NC_000011.8:g.74825736C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_030792.8:c.1562G>A MANE Select	NP_110419.5:p.Arg521His
ENST00000336898.8:c.1562G>A MANE Select	ENSP00000337972.3:p.Arg521His
NM_001351167.1:c.1148G>A	NP_001338096.1:p.Arg383His
NM_001351167.2:c.1148G>A	NP_001338096.1:p.Arg383His
NM_001351168.1:c.827G>A	NP_001338097.1:p.Arg276His
NM_030792.6:c.1562G>A	NP_110419.5:p.Arg521His
NM_030792.7:c.1562G>A	NP_110419.5:p.Arg521His
ENST00000336898.7:c.1562G>A	ENSP00000337972.3:p.Arg521His
ENST00000443276.6:c.*1460G>A	ENSP00000396535.2:n.*1460G>A
ENST00000526177.5:c.1148G>A	ENSP00000434050.1:p.Arg383His
ENST00000527820.5:c.*1460G>A	ENSP00000437123.1:n.*1460G>A
ENST00000529721.5:c.1562G>A	ENSP00000433214.1:p.Arg521His
ENST00000531759.1:n.1806G>A
ENST00000533784.5:c.1205G>A	ENSP00000437049.1:p.Arg402His
ENST00000533805.5:c.827G>A	ENSP00000435196.1:p.Arg276His
ENST00000534322.1:c.329G>A	ENSP00000435728.1:p.Arg110His
XM_006718697.2:c.1562G>A	XP_006718760.1:p.Arg521His
XM_006718697.3:c.1562G>A	XP_006718760.1:p.Arg521His
XM_011545275.1:c.1562G>A	XP_011543577.1:p.Arg521His
XM_011545276.1:c.1562G>A	XP_011543578.1:p.Arg521His
XM_011545276.2:c.1562G>A	XP_011543578.1:p.Arg521His
XM_011545277.1:c.1562G>A	XP_011543579.1:p.Arg521His
XM_011545277.2:c.1562G>A	XP_011543579.1:p.Arg521His
XM_011545278.1:c.1562G>A	XP_011543580.1:p.Arg521His
XM_011545278.2:c.1562G>A	XP_011543580.1:p.Arg521His
XM_011545279.1:c.1562G>A	XP_011543581.1:p.Arg521His
XM_011545279.2:c.1562G>A	XP_011543581.1:p.Arg521His
XM_011545280.1:c.1391G>A	XP_011543582.1:p.Arg464His
XM_011545281.1:c.1148G>A	XP_011543583.1:p.Arg383His
XM_011545281.2:c.1148G>A	XP_011543583.1:p.Arg383His
XM_011545282.1:c.1148G>A	XP_011543584.1:p.Arg383His
XM_011545283.1:c.1148G>A	XP_011543585.1:p.Arg383His
XM_011545284.1:c.1148G>A	XP_011543586.1:p.Arg383His
XM_011545285.1:c.1148G>A	XP_011543587.1:p.Arg383His
XM_011545286.1:c.827G>A	XP_011543588.1:p.Arg276His
XM_011545287.1:c.827G>A	XP_011543589.1:p.Arg276His