Canonical Allele Identifier: CA3280943
Gene: HTR1A HGNC NCBI
COSMIC:
COSM6352401 (not active)
MyVariant.info:
GRCh38 chr5:g.63961426C>T
GRCh37 chr5:g.63257253C>T
gnomAD v2:
5:63257253 C / T
gnomAD v3:
5:63961426 C / T
gnomAD v4:
chr5-63961426-C-T
Joint Max Group AF 0.26351134 (AFR)
Genomes Max Group AF 0.25681685 (AFR)
Exomes Max Group AF 0.26897377 (AFR)
dbSNP:
6294
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.63961426C>T , CM000667.2:g.63961426C>T GRCh38
NC_000005.9:g.63257253C>T , CM000667.1:g.63257253C>T GRCh37
NC_000005.8:g.63293009C>T NCBI36
NG_032816.1:g.5867G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323865.5:c.294G>A MANE Select ENSP00000316244.4:p.Val98=
ENST00000323865.4:c.294G>A ENSP00000316244.3:p.Val98=
NM_000524.3:c.294G>A NP_000515.2:p.Val98=
NM_000524.4:c.294G>A MANE Select NP_000515.2:p.Val98=
Search 100 bp 5'
Search 100 bp 3'