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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:
CA144871
Gene: TACR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66084
ClinVar RCV Id:
RCV000056319
RCV000727615
dbSNP Id:
rs144292455
ExAC:
4:104577415 C / T
gnomAD v2:
4-104577415-C-T
gnomAD v3:
4-103656258-C-T
gnomAD v4:
4-103656258-C-T
MyVariant Identifiers:
chr4:g.104577415C>T (hg19)
chr4:g.103656258C>T (hg38)
PubMed:
PMID:20332248
PMID:21300340
PMID:22031817
PMID:22035731
PMID:23643382
PMID:25525159
PMID:26207952
PMID:26239645
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.103656258C>T , CM000666.2:g.103656258C>T
GRCh38
NC_000004.11:g.104577415C>T , CM000666.1:g.104577415C>T
GRCh37
NC_000004.10:g.104796864C>T
NCBI36
NG_023344.1:g.68559G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000304883.3:c.824G>A
MANE Select
ENSP00000303325.2:p.Trp275Ter
ENST00000304883.2:c.824G>A
ENSP00000303325.2:p.Trp275Ter
NM_001059.2:c.824G>A
NP_001050.1:p.Trp275Ter
NM_001059.3:c.824G>A
MANE Select
NP_001050.1:p.Trp275Ter
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