Canonical Allele Identifier: CA330978754

Gene: GDPD2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70425018G>A , CM000685.2:g.70425018G>A	GRCh38
NC_000023.10:g.69644868G>A , CM000685.1:g.69644868G>A	GRCh37
NC_000023.9:g.69561593G>A	NCBI36
NG_016413.1:g.6988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374382.4:c.34G>A MANE Select	ENSP00000363503.3:p.Ala12Thr
ENST00000374382.3:c.34G>A	ENSP00000363503.3:p.Ala12Thr
ENST00000453994.6:c.34G>A	ENSP00000414019.2:p.Ala12Thr
ENST00000536730.5:c.-132-336G>A	ENSP00000445982.1:n.-132-336G>A
ENST00000538649.5:c.-28-745G>A	ENSP00000444601.1:n.-28-745G>A
NM_001171191.1:c.-28-745G>A	NP_001164662.1:n.-28-745G>A
NM_001171192.1:c.34G>A	NP_001164663.1:p.Ala12Thr
NM_001171193.1:c.-132-336G>A	NP_001164664.1:n.-132-336G>A
NM_017711.3:c.34G>A	NP_060181.2:p.Ala12Thr
XM_011530977.1:c.-78-1034G>A	XP_011529279.1:n.-78-1034G>A
XM_017029614.1:c.-632-336G>A	XP_016885103.1:n.-632-336G>A
NM_001171191.2:c.-28-745G>A	NP_001164662.1:n.-28-745G>A
NM_001171192.2:c.34G>A	NP_001164663.1:p.Ala12Thr
NM_001171193.2:c.-132-336G>A	NP_001164664.1:n.-132-336G>A
NM_017711.4:c.34G>A MANE Select	NP_060181.2:p.Ala12Thr