Canonical Allele Identifier: CA223899899
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 444257
ClinVar RCV Id: RCV000513627
dbSNP Id: rs926661627
gnomAD v2: 11-64520607-C-T
gnomAD v3: 11-64753135-C-T
gnomAD v4: 11-64753135-C-T
COSMIC: COSM930185
MyVariant Identifiers: chr11:g.64520607C>T (hg19) chr11:g.64753135C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753135C>T , CM000673.2:g.64753135C>T GRCh38
NC_000011.9:g.64520607C>T , CM000673.1:g.64520607C>T GRCh37
NC_000011.8:g.64277183C>T NCBI36
NG_013018.1:g.12581G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1456G>A MANE Select ENSP00000164139.3:p.Gly486Ser
ENST00000164139.3:c.1456G>A ENSP00000164139.3:p.Gly486Ser
ENST00000377432.7:c.1192G>A ENSP00000366650.3:p.Gly398Ser
NM_001164716.1:c.1192G>A NP_001158188.1:p.Gly398Ser
NM_005609.2:c.1456G>A NP_005600.1:p.Gly486Ser
NM_005609.3:c.1456G>A NP_005600.1:p.Gly486Ser
NM_005609.4:c.1456G>A MANE Select NP_005600.1:p.Gly486Ser
Search 100 bp 5'
Search 100 bp 3'