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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:
CA475161380
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1118104
ClinVar RCV Id:
RCV001447104
dbSNP Id:
rs2058421873
gnomAD v4:
11-64759764-A-G
MyVariant Identifiers:
chr11:g.64527236A>G (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.64759764A>G , CM000673.2:g.64759764A>G
GRCh38
NC_000011.9:g.64527236A>G , CM000673.1:g.64527236A>G
GRCh37
NC_000011.8:g.64283812A>G
NCBI36
NG_013018.1:g.5952T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000164139.4:c.135T>C
MANE Select
ENSP00000164139.3:p.Asn45=
ENST00000164139.3:c.135T>C
ENSP00000164139.3:p.Asn45=
ENST00000377432.7:c.135T>C
ENSP00000366650.3:p.Asn45=
NM_001164716.1:c.135T>C
NP_001158188.1:p.Asn45=
NM_005609.2:c.135T>C
NP_005600.1:p.Asn45=
NM_005609.3:c.135T>C
NP_005600.1:p.Asn45=
NM_005609.4:c.135T>C
MANE Select
NP_005600.1:p.Asn45=
Search 100 bp 5'
Search 100 bp 3'