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: CA437322482

Gene: HTR3C HGNC NCBI

Linked Data

dbSNP Id: rs750780372

gnomAD v2: 3-183777951-G-C

MyVariant Identifiers: chr3:g.183777951G>C (hg19) chr3:g.184060163G>C (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184060163G>C , CM000665.2:g.184060163G>C	GRCh38
NC_000003.11:g.183777951G>C , CM000665.1:g.183777951G>C	GRCh37
NC_000003.10:g.185260645G>C	NCBI36
NG_012749.1:g.12117G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318351.2:c.1155G>C MANE Select	ENSP00000322617.1:p.Pro385=
ENST00000318351.1:c.1155G>C	ENSP00000322617.1:p.Pro385=
NM_130770.2:c.1155G>C	NP_570126.2:p.Pro385=
NM_130770.3:c.1155G>C MANE Select	NP_570126.2:p.Pro385=

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