Canonical Allele Identifier: CA10441616
Gene: GDPD2 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.70426071G>A
GRCh37 chrX:g.69645921G>A
Revel Score:
ENST00000453994 0.022
ENST00000536730 0.022
ENST00000538649 0.022
ENST00000374382 (MANE Select) 0.022
gnomAD v2:
X:69645921 G / A
gnomAD v3:
X:70426071 G / A
gnomAD v4:
chrX-70426071-G-A
Joint Max Group AF 0.00004988 (NFE)
Genomes Max Group AF 0.00003694 (NFE)
Exomes Max Group AF 0.00004808 (NFE)
ClinVar RCV:
RCV004200140
ClinVar Variation:
2366647
dbSNP:
201919031
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70426071G>A , CM000685.2:g.70426071G>A GRCh38
NC_000023.10:g.69645921G>A , CM000685.1:g.69645921G>A GRCh37
NC_000023.9:g.69562646G>A NCBI36
NG_016413.1:g.8041G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374382.4:c.323G>A MANE Select ENSP00000363503.3:p.Arg108Gln
ENST00000374382.3:c.323G>A ENSP00000363503.3:p.Arg108Gln
ENST00000453994.6:c.323G>A ENSP00000414019.2:p.Arg108Gln
ENST00000472623.1:n.56G>A
ENST00000536730.5:c.86G>A ENSP00000445982.1:p.Arg29Gln
ENST00000538649.5:c.86G>A ENSP00000444601.1:p.Arg29Gln
NM_001171191.1:c.86G>A NP_001164662.1:p.Arg29Gln
NM_001171192.1:c.323G>A NP_001164663.1:p.Arg108Gln
NM_001171193.1:c.86G>A NP_001164664.1:p.Arg29Gln
NM_017711.3:c.323G>A NP_060181.2:p.Arg108Gln
XM_011530977.1:c.-59G>A XP_011529279.1:n.-59G>A
XM_017029614.1:c.-415G>A XP_016885103.1:n.-415G>A
NM_001171191.2:c.86G>A NP_001164662.1:p.Arg29Gln
NM_001171192.2:c.323G>A NP_001164663.1:p.Arg108Gln
NM_001171193.2:c.86G>A NP_001164664.1:p.Arg29Gln
NM_017711.4:c.323G>A MANE Select NP_060181.2:p.Arg108Gln
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