Canonical Allele Identifier: CA126109
Gene: GMPR HGNC NCBI
COSMIC:
COSM3761637 (not active)
MyVariant.info:
GRCh38 chr6:g.16290530T>A
GRCh37 chr6:g.16290761T>A
Revel Score:
ENST00000259727 (MANE Select) 0.245
gnomAD v2:
6:16290761 T / A
gnomAD v3:
6:16290530 T / A
gnomAD v4:
chr6-16290530-T-A
Joint Max Group AF 0.87368069 (EAS)
Genomes Max Group AF 0.86010755 (EAS)
Exomes Max Group AF 0.87315403 (EAS)
ClinVar RCV:
RCV000017331
RCV001610292
ClinVar Variation:
15961
dbSNP:
1042391
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16290530T>A , CM000668.2:g.16290530T>A GRCh38
NC_000006.11:g.16290761T>A , CM000668.1:g.16290761T>A GRCh37
NC_000006.10:g.16398740T>A NCBI36
NG_013303.1:g.56951T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259727.5:c.766T>A MANE Select ENSP00000259727.4:p.Phe256Ile
ENST00000259727.4:c.766T>A ENSP00000259727.4:p.Phe256Ile
ENST00000540478.1:n.586T>A
ENST00000543191.5:n.261T>A
ENST00000544145.1:n.120T>A
NM_006877.3:c.766T>A NP_006868.3:p.Phe256Ile
XM_011514508.1:c.909T>A XP_011512810.1:p.Cys303Ter
XM_011514508.2:c.909T>A XP_011512810.1:p.Cys303Ter
NM_006877.4:c.766T>A MANE Select NP_006868.3:p.Phe256Ile
Search 100 bp 5'
Search 100 bp 3'