Canonical Allele Identifier: CA679265327
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1458853485
gnomAD v4: 11-64760017-C-T
MyVariant Identifiers: chr11:g.64527489C>T (hg19) chr11:g.64760017C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64760017C>T , CM000673.2:g.64760017C>T GRCh38
NC_000011.9:g.64527489C>T , CM000673.1:g.64527489C>T GRCh37
NC_000011.8:g.64284065C>T NCBI36
NG_013018.1:g.5699G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.3:c.-119G>A ENSP00000164139.3:n.-119G>A
NM_001164716.1:c.-119G>A NP_001158188.1:n.-119G>A
NM_005609.2:c.-119G>A NP_005600.1:n.-119G>A
NM_005609.3:c.-119G>A NP_005600.1:n.-119G>A
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