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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:
CA361490881
Gene: PURA
HGNC
NCBI
Linked Data
gnomAD v4:
5-140114667-C-A
MyVariant Identifiers:
chr5:g.139494252C>A (hg19)
chr5:g.140114667C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.140114667C>A , CM000667.2:g.140114667C>A
GRCh38
NC_000005.9:g.139494252C>A , CM000667.1:g.139494252C>A
GRCh37
NC_000005.8:g.139474436C>A
NCBI36
NG_041813.1:g.5545C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000331327.5:c.486C>A
MANE Select
ENSP00000332706.3:p.Asn162Lys
ENST00000651386.1:c.486C>A
ENSP00000499133.1:p.Asn162Lys
ENST00000331327.4:c.486C>A
ENSP00000332706.3:p.Asn162Lys
NM_005859.4:c.486C>A
NP_005850.1:p.Asn162Lys
NM_005859.5:c.486C>A
MANE Select
NP_005850.1:p.Asn162Lys
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