Canonical Allele Identifier: CA938842308
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs2058424285
gnomAD v3: 11-64759994-G-C
gnomAD v4: 11-64759994-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759994G>C , CM000673.2:g.64759994G>C GRCh38
NC_000011.9:g.64527466G>C , CM000673.1:g.64527466G>C GRCh37
NC_000011.8:g.64284042G>C NCBI36
NG_013018.1:g.5722C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.3:c.-96C>G ENSP00000164139.3:n.-96C>G
NM_001164716.1:c.-96C>G NP_001158188.1:n.-96C>G
NM_005609.2:c.-96C>G NP_005600.1:n.-96C>G
NM_005609.3:c.-96C>G NP_005600.1:n.-96C>G
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