Canonical Allele Identifier: CA223889531
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs897204681
gnomAD v4: 11-64759956-C-T
MyVariant Identifiers: chr11:g.64527428C>T (hg19) chr11:g.64759956C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759956C>T , CM000673.2:g.64759956C>T GRCh38
NC_000011.9:g.64527428C>T , CM000673.1:g.64527428C>T GRCh37
NC_000011.8:g.64284004C>T NCBI36
NG_013018.1:g.5760G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.-58G>A MANE Select ENSP00000164139.3:n.-58G>A
ENST00000164139.3:c.-58G>A ENSP00000164139.3:n.-58G>A
ENST00000377432.7:c.-58G>A ENSP00000366650.3:n.-58G>A
NM_001164716.1:c.-58G>A NP_001158188.1:n.-58G>A
NM_005609.2:c.-58G>A NP_005600.1:n.-58G>A
NM_005609.3:c.-58G>A NP_005600.1:n.-58G>A
NM_005609.4:c.-58G>A MANE Select NP_005600.1:n.-58G>A
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