Canonical Allele Identifier: CA474958911
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1185945184
MyVariant Identifiers: chr11:g.64518900T>C (hg19) chr11:g.64751428T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751428T>C , CM000673.2:g.64751428T>C GRCh38
NC_000011.9:g.64518900T>C , CM000673.1:g.64518900T>C GRCh37
NC_000011.8:g.64275476T>C NCBI36
NG_013018.1:g.14288A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1866A>G MANE Select ENSP00000164139.3:p.Arg622=
ENST00000164139.3:c.1866A>G ENSP00000164139.3:p.Arg622=
ENST00000377432.7:c.1602A>G ENSP00000366650.3:p.Arg534=
ENST00000462303.1:n.190A>G
NM_001164716.1:c.1602A>G NP_001158188.1:p.Arg534=
NM_005609.2:c.1866A>G NP_005600.1:p.Arg622=
NM_005609.3:c.1866A>G NP_005600.1:p.Arg622=
NM_005609.4:c.1866A>G MANE Select NP_005600.1:p.Arg622=
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