Canonical Allele Identifier: CA6561439
Gene: GPD1 HGNC NCBI
ClinVar RCV:
RCV003734021
ClinVar Variation:
2902963
dbSNP:
767554065
gnomAD v2:
12:50498375 G / A
gnomAD v3:
12:50104592 G / A
gnomAD v4:
chr12-50104592-G-A
Joint Max Group AF 0.00028328 (SAS)
Exomes Max Group AF 0.00028996 (SAS)
MyVariant.info:
GRCh38 chr12:g.50104592G>A
GRCh37 chr12:g.50498375G>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.50104592G>A , CM000674.2:g.50104592G>A GRCh38
NC_000012.11:g.50498375G>A , CM000674.1:g.50498375G>A GRCh37
NC_000012.10:g.48784642G>A NCBI36
NG_032168.1:g.5774G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301149.8:c.60G>A MANE Select ENSP00000301149.3:p.Lys20=
ENST00000301149.7:c.60G>A ENSP00000301149.3:p.Lys20=
ENST00000547190.5:n.103G>A
ENST00000547964.5:c.104G>A ENSP00000448244.1:p.Arg35Lys
ENST00000548152.1:n.131G>A
ENST00000548814.1:c.60G>A ENSP00000446768.1:p.Lys20=
ENST00000551939.5:n.103G>A
NM_001257199.1:c.60G>A NP_001244128.1:p.Lys20=
NM_005276.3:c.60G>A NP_005267.2:p.Lys20=
NM_005276.4:c.60G>A MANE Select NP_005267.2:p.Lys20=
NM_001257199.2:c.60G>A NP_001244128.1:p.Lys20=
Search 100 bp 5'
Search 100 bp 3'