Canonical Allele Identifier: CA120239542
Gene: HTR1A HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.63961175G>C
GRCh37 chr5:g.63257002G>C
Revel Score:
ENST00000323865 (MANE Select) 0.487
gnomAD v3:
5:63961175 G / C
gnomAD v4:
chr5-63961175-G-C
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000323865.5:c.545C>G MANE Select ENSP00000316244.4:p.Ser182Trp
ENST00000323865.4:c.545C>G ENSP00000316244.3:p.Ser182Trp
NM_000524.3:c.545C>G NP_000515.2:p.Ser182Trp
NM_000524.4:c.545C>G MANE Select NP_000515.2:p.Ser182Trp
Search 100 bp 5'
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