Canonical Allele Identifier: CA474959211
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 3012951
ClinVar RCV Id: RCV003878062
dbSNP Id: rs766082496
gnomAD v4: 11-64753551-C-A
MyVariant Identifiers: chr11:g.64521023C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753551C>A , CM000673.2:g.64753551C>A GRCh38
NC_000011.9:g.64521023C>A , CM000673.1:g.64521023C>A GRCh37
NC_000011.8:g.64277599C>A NCBI36
NG_013018.1:g.12165G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1371G>T MANE Select ENSP00000164139.3:p.Ala457=
ENST00000164139.3:c.1371G>T ENSP00000164139.3:p.Ala457=
ENST00000377432.7:c.1107G>T ENSP00000366650.3:p.Ala369=
NM_001164716.1:c.1107G>T NP_001158188.1:p.Ala369=
NM_005609.2:c.1371G>T NP_005600.1:p.Ala457=
NM_005609.3:c.1371G>T NP_005600.1:p.Ala457=
NM_005609.4:c.1371G>T MANE Select NP_005600.1:p.Ala457=
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