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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:
CA381175062
Gene: PYGM
HGNC
NCBI
Linked Data
gnomAD v4:
11-64753125-G-A
MyVariant Identifiers:
chr11:g.64520597G>A (hg19)
chr11:g.64753125G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.64753125G>A , CM000673.2:g.64753125G>A
GRCh38
NC_000011.9:g.64520597G>A , CM000673.1:g.64520597G>A
GRCh37
NC_000011.8:g.64277173G>A
NCBI36
NG_013018.1:g.12591C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000164139.4:c.1466C>T
MANE Select
ENSP00000164139.3:p.Pro489Leu
ENST00000164139.3:c.1466C>T
ENSP00000164139.3:p.Pro489Leu
ENST00000377432.7:c.1202C>T
ENSP00000366650.3:p.Pro401Leu
NM_001164716.1:c.1202C>T
NP_001158188.1:p.Pro401Leu
NM_005609.2:c.1466C>T
NP_005600.1:p.Pro489Leu
NM_005609.3:c.1466C>T
NP_005600.1:p.Pro489Leu
NM_005609.4:c.1466C>T
MANE Select
NP_005600.1:p.Pro489Leu
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