Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA249263567

Gene: HTR2A HGNC NCBI

Linked Data

dbSNP Id: rs984926172

gnomAD v3: 13-46897352-C-T

gnomAD v4: 13-46897352-C-T

MyVariant Identifiers: chr13:g.47471487C>T (hg19) chr13:g.46897352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46897352C>T , CM000675.2:g.46897352C>T	GRCh38
NC_000013.10:g.47471487C>T , CM000675.1:g.47471487C>T	GRCh37
NC_000013.9:g.46369488C>T	NCBI36
NG_013011.1:g.4683G>A

Transcript Alleles

HGVS	Amino-acid change
NM_001378924.1:c.-329+600G>A	NP_001365853.1:n.-329+600G>A

Search 100 bp 5'

Search 100 bp 3'