Canonical Allele Identifier: CA474960096
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2977450
ClinVar RCV Id: RCV003831568
dbSNP Id: rs2058407955
gnomAD v3: 11-64758318-G-C
gnomAD v4: 11-64758318-G-C
MyVariant Identifiers: chr11:g.64525790G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758318G>C , CM000673.2:g.64758318G>C GRCh38
NC_000011.9:g.64525790G>C , CM000673.1:g.64525790G>C GRCh37
NC_000011.8:g.64282366G>C NCBI36
NG_013018.1:g.7398C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.456C>G MANE Select ENSP00000164139.3:p.Gly152=
ENST00000164139.3:c.456C>G ENSP00000164139.3:p.Gly152=
ENST00000377432.7:c.244-52C>G ENSP00000366650.3:n.244-52C>G
NM_001164716.1:c.244-52C>G NP_001158188.1:n.244-52C>G
NM_005609.2:c.456C>G NP_005600.1:p.Gly152=
NM_005609.3:c.456C>G NP_005600.1:p.Gly152=
NM_005609.4:c.456C>G MANE Select NP_005600.1:p.Gly152=
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