Canonical Allele Identifier: CA355379498
Gene: HTR3C HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.184060222G>A
GRCh37 chr3:g.183778010G>A
Revel Score:
ENST00000318351 (MANE Select) 0.095
gnomAD v2:
3:183778010 G / A
gnomAD v4:
chr3-184060222-G-A
Joint Max Group AF 0.00002256 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
dbSNP:
6807362
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184060222G>A , CM000665.2:g.184060222G>A GRCh38
NC_000003.11:g.183778010G>A , CM000665.1:g.183778010G>A GRCh37
NC_000003.10:g.185260704G>A NCBI36
NG_012749.1:g.12176G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318351.2:c.1214G>A MANE Select ENSP00000322617.1:p.Gly405Glu
ENST00000318351.1:c.1214G>A ENSP00000322617.1:p.Gly405Glu
NM_130770.2:c.1214G>A NP_570126.2:p.Gly405Glu
NM_130770.3:c.1214G>A MANE Select NP_570126.2:p.Gly405Glu
Search 100 bp 5'
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