Canonical Allele Identifier: CA9938019
Gene: HRH3 HGNC NCBI
COSMIC:
COSM3758688 (not active)
COSM3758689 (not active)
MyVariant.info:
GRCh38 chr20:g.62216348C>T
GRCh37 chr20:g.60791404C>T
gnomAD v2:
20:60791404 C / T
gnomAD v3:
20:62216348 C / T
gnomAD v4:
chr20-62216348-C-T
Joint Max Group AF 0.55306024 (AFR)
Genomes Max Group AF 0.5487865 (AFR)
Exomes Max Group AF 0.55426118 (AFR)
dbSNP:
3787429
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62216348C>T , CM000682.2:g.62216348C>T GRCh38
NC_000020.10:g.60791404C>T , CM000682.1:g.60791404C>T GRCh37
NC_000020.9:g.60224799C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000340177.10:c.996G>A MANE Select ENSP00000342560.5:p.Ser332=
ENST00000317393.10:c.822-66G>A ENSP00000321482.7:n.822-66G>A
ENST00000340177.9:c.996G>A ENSP00000342560.5:p.Ser332=
ENST00000611492.1:c.587G>A ENSP00000482567.1:p.Arg196His
NM_007232.2:c.996G>A NP_009163.2:p.Ser332=
XM_005260266.2:c.996G>A XP_005260323.1:p.Ser332=
XM_005260267.3:c.822-66G>A XP_005260324.1:n.822-66G>A
XM_005260266.3:c.996G>A XP_005260323.1:p.Ser332=
XM_017027623.1:c.834G>A XP_016883112.1:p.Ser278=
NM_007232.3:c.996G>A MANE Select NP_009163.2:p.Ser332=
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