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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA355379313
Gene: HTR3C
HGNC
NCBI
Linked Data
gnomAD v4:
3-184060153-C-T
MyVariant Identifiers:
chr3:g.183777941C>T (hg19)
chr3:g.184060153C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.184060153C>T , CM000665.2:g.184060153C>T
GRCh38
NC_000003.11:g.183777941C>T , CM000665.1:g.183777941C>T
GRCh37
NC_000003.10:g.185260635C>T
NCBI36
NG_012749.1:g.12107C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000318351.2:c.1145C>T
MANE Select
ENSP00000322617.1:p.Pro382Leu
ENST00000318351.1:c.1145C>T
ENSP00000322617.1:p.Pro382Leu
NM_130770.2:c.1145C>T
NP_570126.2:p.Pro382Leu
NM_130770.3:c.1145C>T
MANE Select
NP_570126.2:p.Pro382Leu
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