Canonical Allele Identifier: CA6449224
Gene: TAS2R13 HGNC NCBI
PRR4 HGNC NCBI
PRH1 HGNC NCBI
dbSNP:
1015443
gnomAD v2:
12:11061122 T / C
gnomAD v3:
12:10908523 T / C
gnomAD v4:
chr12-10908523-T-C
Joint Max Group AF 0.7249414 (EAS)
Genomes Max Group AF 0.69737869 (EAS)
Exomes Max Group AF 0.72645975 (EAS)
MyVariant.info:
GRCh38 chr12:g.10908523T>C
GRCh37 chr12:g.11061122T>C
Revel Score:
ENST00000390677 (MANE Select) 0.018
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.10908523T>C , CM000674.2:g.10908523T>C GRCh38
NC_000012.11:g.11061122T>C , CM000674.1:g.11061122T>C GRCh37
NC_000012.10:g.10952389T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000703543.1:c.-58-24248A>G ENSP00000515364.1:n.-58-24248A>G
ENST00000535024.6:c.104-60116A>G ENSP00000481571.2:n.104-60116A>G
ENST00000390677.2:c.776A>G (TAS2R13) MANE Select ENSP00000375095.2:p.Asn259Ser
ENST00000535024.5:c.104-60116A>G (PRR4) ENSP00000481571.1:n.104-60116A>G
ENST00000536086.2:n.90-16598A>G (PRH1)
ENST00000536668.2:c.177-24248A>G ENSP00000482961.1:n.177-24248A>G
ENST00000539853.5:c.-58-24248A>G (PRH1) ENSP00000482068.1:n.-58-24248A>G
ENST00000541977.5:n.360-25427A>G (PRH1)
ENST00000546317.1:n.53-13194A>G (PRR4)
NM_001291314.1:c.-58-24248A>G (PRH1) NP_001278243.1:n.-58-24248A>G
NM_001291315.1:c.104-25427A>G (PRH1) NP_001278244.1:n.104-25427A>G
NM_023920.2:c.776A>G (TAS2R13) MANE Select NP_076409.1:p.Asn259Ser
NR_037918.2:n.545-24248A>G
NM_001291314.2:c.-58-24248A>G (PRH1) NP_001278243.1:n.-58-24248A>G
NM_001291315.2:c.104-25427A>G (PRH1) NP_001278244.1:n.104-25427A>G
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