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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:
CA409437658
Gene: PCK1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr20:g.56140649C>G (hg19)
chr20:g.57565593C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.57565593C>G , CM000682.2:g.57565593C>G
GRCh38
NC_000020.10:g.56140649C>G , CM000682.1:g.56140649C>G
GRCh37
NC_000020.9:g.55574055C>G
NCBI36
NG_008205.1:g.9513C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000319441.6:c.1658C>G
MANE Select
ENSP00000319814.4:p.Thr553Arg
ENST00000319441.5:c.1658C>G
ENSP00000319814.4:p.Thr553Arg
ENST00000467047.1:n.4300C>G
NM_002591.3:c.1658C>G
NP_002582.3:p.Thr553Arg
XM_011528839.1:c.1262C>G
XP_011527141.1:p.Thr421Arg
XM_024451888.1:c.1262C>G
XP_024307656.1:p.Thr421Arg
NM_002591.4:c.1658C>G
MANE Select
NP_002582.3:p.Thr553Arg
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