Canonical Allele Identifier: CA381175711
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1518551
ClinVar RCV Id: RCV002023942
dbSNP Id: rs2135832903
gnomAD v4: 11-64753543-T-C
MyVariant Identifiers: chr11:g.64521015T>C (hg19) chr11:g.64753543T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753543T>C , CM000673.2:g.64753543T>C GRCh38
NC_000011.9:g.64521015T>C , CM000673.1:g.64521015T>C GRCh37
NC_000011.8:g.64277591T>C NCBI36
NG_013018.1:g.12173A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1379A>G MANE Select ENSP00000164139.3:p.His460Arg
ENST00000164139.3:c.1379A>G ENSP00000164139.3:p.His460Arg
ENST00000377432.7:c.1115A>G ENSP00000366650.3:p.His372Arg
NM_001164716.1:c.1115A>G NP_001158188.1:p.His372Arg
NM_005609.2:c.1379A>G NP_005600.1:p.His460Arg
NM_005609.3:c.1379A>G NP_005600.1:p.His460Arg
NM_005609.4:c.1379A>G MANE Select NP_005600.1:p.His460Arg
Search 100 bp 5'
Search 100 bp 3'