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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:
CA132784477
Gene: DRD1
HGNC
NCBI
Linked Data
dbSNP Id:
rs140926690
gnomAD v2:
5-174868536-C-T
gnomAD v3:
5-175441533-C-T
gnomAD v4:
5-175441533-C-T
MyVariant Identifiers:
chr5:g.174868536C>T (hg19)
chr5:g.175441533C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.175441533C>T , CM000667.2:g.175441533C>T
GRCh38
NC_000005.9:g.174868536C>T , CM000667.1:g.174868536C>T
GRCh37
NC_000005.8:g.174801142C>T
NCBI36
NG_011802.1:g.7628G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000393752.3:c.*226G>A
MANE Select
ENSP00000377353.1:n.*226G>A
ENST00000393752.2:c.*226G>A
ENSP00000377353.1:n.*226G>A
NM_000794.3:c.*226G>A
NP_000785.1:n.*226G>A
NM_000794.4:c.*226G>A
NP_000785.1:n.*226G>A
NM_000794.5:c.*226G>A
MANE Select
NP_000785.1:n.*226G>A
Search 100 bp 5'
Search 100 bp 3'