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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:
CA511311073
Gene: PCK1
HGNC
NCBI
Linked Data
dbSNP Id:
rs766968081
gnomAD v2:
20-56140650-G-T
gnomAD v4:
20-57565594-G-T
MyVariant Identifiers:
chr20:g.56140650G>T (hg19)
chr20:g.57565594G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.57565594G>T , CM000682.2:g.57565594G>T
GRCh38
NC_000020.10:g.56140650G>T , CM000682.1:g.56140650G>T
GRCh37
NC_000020.9:g.55574056G>T
NCBI36
NG_008205.1:g.9514G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000319441.6:c.1659G>T
MANE Select
ENSP00000319814.4:p.Thr553=
ENST00000319441.5:c.1659G>T
ENSP00000319814.4:p.Thr553=
ENST00000467047.1:n.4301G>T
NM_002591.3:c.1659G>T
NP_002582.3:p.Thr553=
XM_011528839.1:c.1263G>T
XP_011527141.1:p.Thr421=
XM_024451888.1:c.1263G>T
XP_024307656.1:p.Thr421=
NM_002591.4:c.1659G>T
MANE Select
NP_002582.3:p.Thr553=
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