Canonical Allele Identifier: CA223898666
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1006964717
gnomAD v2: 11-64519118-C-T
gnomAD v3: 11-64751646-C-T
gnomAD v4: 11-64751646-C-T
MyVariant Identifiers: chr11:g.64519118C>T (hg19) chr11:g.64751646C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751646C>T , CM000673.2:g.64751646C>T GRCh38
NC_000011.9:g.64519118C>T , CM000673.1:g.64519118C>T GRCh37
NC_000011.8:g.64275694C>T NCBI36
NG_013018.1:g.14070G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1778G>A MANE Select ENSP00000164139.3:p.Arg593Lys
ENST00000164139.3:c.1778G>A ENSP00000164139.3:p.Arg593Lys
ENST00000377432.7:c.1514G>A ENSP00000366650.3:p.Arg505Lys
ENST00000462303.1:n.102G>A
NM_001164716.1:c.1514G>A NP_001158188.1:p.Arg505Lys
NM_005609.2:c.1778G>A NP_005600.1:p.Arg593Lys
NM_005609.3:c.1778G>A NP_005600.1:p.Arg593Lys
NM_005609.4:c.1778G>A MANE Select NP_005600.1:p.Arg593Lys
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