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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:
CA942579063
Gene: ZPR1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1940751897
gnomAD v3:
11-116778420-G-T
gnomAD v4:
11-116778420-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.116778420G>T , CM000673.2:g.116778420G>T
GRCh38
NC_000011.9:g.116649136G>T , CM000673.1:g.116649136G>T
GRCh37
NC_000011.8:g.116154346G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000227322.8:c.*505C>A
MANE Select
ENSP00000227322.3:n.*505C>A
ENST00000227322.7:c.*505C>A
ENSP00000227322.3:n.*505C>A
ENST00000429220.5:c.1664C>A
ENST00000444935.5:c.1797C>A
NM_001317086.1:c.*505C>A
NP_001304015.1:n.*505C>A
NM_003904.4:c.*505C>A
NP_003895.1:n.*505C>A
NM_003904.5:c.*505C>A
MANE Select
NP_003895.1:n.*505C>A
NM_001317086.2:c.*505C>A
NP_001304015.1:n.*505C>A
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