Canonical Allele Identifier: CA6561752
Gene: GPD1 HGNC NCBI
ClinVar RCV:
RCV001951698
RCV002569154
ClinVar Variation:
1460645
dbSNP:
141722369
gnomAD v2:
12:50501549 G / A
gnomAD v3:
12:50107766 G / A
gnomAD v4:
chr12-50107766-G-A
Joint Max Group AF 0.00021971 (AFR)
Genomes Max Group AF 0.00026006 (AFR)
Exomes Max Group AF 0.00016316 (NFE)
MyVariant.info:
GRCh38 chr12:g.50107766G>A
GRCh37 chr12:g.50501549G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.50107766G>A , CM000674.2:g.50107766G>A GRCh38
NC_000012.11:g.50501549G>A , CM000674.1:g.50501549G>A GRCh37
NC_000012.10:g.48787816G>A NCBI36
NG_032155.1:g.786G>A
NG_032168.1:g.8948G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301149.8:c.812G>A MANE Select ENSP00000301149.3:p.Arg271Gln
ENST00000301149.7:c.812G>A ENSP00000301149.3:p.Arg271Gln
ENST00000547190.5:n.656-258G>A
ENST00000548814.1:c.743G>A ENSP00000446768.1:p.Arg248Gln
NM_001257199.1:c.743G>A NP_001244128.1:p.Arg248Gln
NM_005276.3:c.812G>A NP_005267.2:p.Arg271Gln
NM_005276.4:c.812G>A MANE Select NP_005267.2:p.Arg271Gln
NM_001257199.2:c.743G>A NP_001244128.1:p.Arg248Gln
Search 100 bp 5'
Search 100 bp 3'