Canonical Allele Identifier: CA474960174
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2890329
ClinVar RCV Id: RCV003602951
MyVariant Identifiers: chr11:g.64525808G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758336G>A , CM000673.2:g.64758336G>A GRCh38
NC_000011.9:g.64525808G>A , CM000673.1:g.64525808G>A GRCh37
NC_000011.8:g.64282384G>A NCBI36
NG_013018.1:g.7380C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.438C>T MANE Select ENSP00000164139.3:p.Asp146=
ENST00000164139.3:c.438C>T ENSP00000164139.3:p.Asp146=
ENST00000377432.7:c.244-70C>T ENSP00000366650.3:n.244-70C>T
NM_001164716.1:c.244-70C>T NP_001158188.1:n.244-70C>T
NM_005609.2:c.438C>T NP_005600.1:p.Asp146=
NM_005609.3:c.438C>T NP_005600.1:p.Asp146=
NM_005609.4:c.438C>T MANE Select NP_005600.1:p.Asp146=
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