Canonical Allele Identifier: CA3280899
Gene: HTR1A HGNC NCBI
COSMIC:
COSM4499582 (not active)
MyVariant.info:
GRCh38 chr5:g.63961175G>A
GRCh37 chr5:g.63257002G>A
Revel Score:
ENST00000323865 (MANE Select) 0.214
gnomAD v2:
5:63257002 G / A
gnomAD v3:
5:63961175 G / A
gnomAD v4:
chr5-63961175-G-A
Joint Max Group AF 0.00610665 (EAS)
Genomes Max Group AF 0.0060108 (EAS)
Exomes Max Group AF 0.00591922 (EAS)
ClinVar RCV:
RCV000899353
ClinVar Variation:
725315
dbSNP:
112846276
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.63961175G>A , CM000667.2:g.63961175G>A GRCh38
NC_000005.9:g.63257002G>A , CM000667.1:g.63257002G>A GRCh37
NC_000005.8:g.63292758G>A NCBI36
NG_032816.1:g.6118C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323865.5:c.545C>T MANE Select ENSP00000316244.4:p.Ser182Leu
ENST00000323865.4:c.545C>T ENSP00000316244.3:p.Ser182Leu
NM_000524.3:c.545C>T NP_000515.2:p.Ser182Leu
NM_000524.4:c.545C>T MANE Select NP_000515.2:p.Ser182Leu
Search 100 bp 5'
Search 100 bp 3'