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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:
CA393374057
Gene: ALPK3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr15:g.85383511A>G (hg19)
chr15:g.84840280A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.84840280A>G , CM000677.2:g.84840280A>G
GRCh38
NC_000015.9:g.85383511A>G , CM000677.1:g.85383511A>G
GRCh37
NC_000015.8:g.83184515A>G
NCBI36
NG_054748.1:g.28650A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000258888.6:c.1001A>G
MANE Select
ENSP00000258888.6:p.Lys334Arg
ENST00000258888.5:c.1607A>G
ENSP00000258888.5:p.Lys536Arg
NM_020778.4:c.1607A>G
NP_065829.3:p.Lys536Arg
NM_020778.5:c.1001A>G
MANE Select
NP_065829.4:p.Lys334Arg
Search 100 bp 5'
Search 100 bp 3'