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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:
CA3031044
Gene: TACR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
445619
ClinVar RCV Id:
RCV000514260
RCV000612388
RCV001145492
dbSNP Id:
rs2276973
ExAC:
4:104577382 T / C
gnomAD v2:
4-104577382-T-C
gnomAD v3:
4-103656225-T-C
gnomAD v4:
4-103656225-T-C
MyVariant Identifiers:
chr4:g.104577382T>C (hg19)
chr4:g.103656225T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.103656225T>C , CM000666.2:g.103656225T>C
GRCh38
NC_000004.11:g.104577382T>C , CM000666.1:g.104577382T>C
GRCh37
NC_000004.10:g.104796831T>C
NCBI36
NG_023344.1:g.68592A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000304883.3:c.857A>G
MANE Select
ENSP00000303325.2:p.Lys286Arg
ENST00000304883.2:c.857A>G
ENSP00000303325.2:p.Lys286Arg
NM_001059.2:c.857A>G
NP_001050.1:p.Lys286Arg
NM_001059.3:c.857A>G
MANE Select
NP_001050.1:p.Lys286Arg
Search 100 bp 5'
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