Canonical Allele Identifier: CA2725092
Gene: HTR3D HGNC NCBI
COSMIC:
COSM149529 (not active)
COSM3759887 (not active)
COSM3759888 (not active)
MyVariant.info:
GRCh38 chr3:g.184036506G>C
GRCh37 chr3:g.183754294G>C
Revel Score:
ENST00000334128 0.131
ENST00000428798 (MANE Select) 0.131
gnomAD v2:
3:183754294 G / C
gnomAD v3:
3:184036506 G / C
gnomAD v4:
chr3-184036506-G-C
Joint Max Group AF 0.66594521 (AFR)
Genomes Max Group AF 0.65851453 (AFR)
Exomes Max Group AF 0.67063286 (AFR)
dbSNP:
6443930
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184036506G>C , CM000665.2:g.184036506G>C GRCh38
NC_000003.11:g.183754294G>C , CM000665.1:g.183754294G>C GRCh37
NC_000003.10:g.185236988G>C NCBI36
NG_012750.1:g.9963G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000428798.7:c.329G>C MANE Select ENSP00000405409.2:p.Gly110Ala
ENST00000334128.6:c.107G>C ENSP00000334315.2:p.Gly36Ala
ENST00000382489.3:c.511+1G>C ENSP00000371929.3:n.511+1G>C
ENST00000428798.6:c.329G>C ENSP00000405409.2:p.Gly110Ala
ENST00000453435.1:c.3+1284G>C ENSP00000389268.1:n.3+1284G>C
NM_001145143.1:c.329G>C MANE Select NP_001138615.1:p.Gly110Ala
NM_001163646.1:c.511+1G>C NP_001157118.1:n.511+1G>C
NM_182537.2:c.107G>C NP_872343.2:p.Gly36Ala
XM_017005854.1:c.3+1284G>C XP_016861343.1:n.3+1284G>C
NM_001163646.2:c.511+1G>C NP_001157118.1:n.511+1G>C
NM_182537.3:c.107G>C NP_872343.2:p.Gly36Ala
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