Canonical Allele Identifier: CA3280878
Gene: HTR1A HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.63961061C>A
GRCh37 chr5:g.63256888C>A
Revel Score:
ENST00000323865 (MANE Select) 0.113
gnomAD v2:
5:63256888 C / A
gnomAD v3:
5:63961061 C / A
gnomAD v4:
chr5-63961061-C-A
Joint Max Group AF 0.006273 (NFE)
Genomes Max Group AF 0.0058408 (NFE)
Exomes Max Group AF 0.00627303 (NFE)
ClinVar RCV:
RCV001755417
ClinVar Variation:
1315755
dbSNP:
1800044
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.63961061C>A , CM000667.2:g.63961061C>A GRCh38
NC_000005.9:g.63256888C>A , CM000667.1:g.63256888C>A GRCh37
NC_000005.8:g.63292644C>A NCBI36
NG_032816.1:g.6232G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323865.5:c.659G>T MANE Select ENSP00000316244.4:p.Arg220Leu
ENST00000323865.4:c.659G>T ENSP00000316244.3:p.Arg220Leu
NM_000524.3:c.659G>T NP_000515.2:p.Arg220Leu
NM_000524.4:c.659G>T MANE Select NP_000515.2:p.Arg220Leu
Search 100 bp 5'
Search 100 bp 3'