Canonical Allele Identifier: CA223897813
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1086800
ClinVar RCV Id: RCV001404685
dbSNP Id: rs1021120134
gnomAD v2: 11-64517958-G-C
gnomAD v3: 11-64750486-G-C
gnomAD v4: 11-64750486-G-C
MyVariant Identifiers: chr11:g.64517958G>C (hg19) chr11:g.64750486G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750486G>C , CM000673.2:g.64750486G>C GRCh38
NC_000011.9:g.64517958G>C , CM000673.1:g.64517958G>C GRCh37
NC_000011.8:g.64274534G>C NCBI36
NG_013018.1:g.15230C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2067C>G MANE Select ENSP00000164139.3:p.Thr689=
ENST00000164139.3:c.2067C>G ENSP00000164139.3:p.Thr689=
ENST00000377432.7:c.1803C>G ENSP00000366650.3:p.Thr601=
NM_001164716.1:c.1803C>G NP_001158188.1:p.Thr601=
NM_005609.2:c.2067C>G NP_005600.1:p.Thr689=
NM_005609.3:c.2067C>G NP_005600.1:p.Thr689=
NM_005609.4:c.2067C>G MANE Select NP_005600.1:p.Thr689=
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