Canonical Allele Identifier: CA381109363
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs779198403
gnomAD v2: 11-64525806-G-C
gnomAD v3: 11-64758334-G-C
gnomAD v4: 11-64758334-G-C
MyVariant Identifiers: chr11:g.64525806G>C (hg19) chr11:g.64758334G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758334G>C , CM000673.2:g.64758334G>C GRCh38
NC_000011.9:g.64525806G>C , CM000673.1:g.64525806G>C GRCh37
NC_000011.8:g.64282382G>C NCBI36
NG_013018.1:g.7382C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.440C>G MANE Select ENSP00000164139.3:p.Ser147Cys
ENST00000164139.3:c.440C>G ENSP00000164139.3:p.Ser147Cys
ENST00000377432.7:c.244-68C>G ENSP00000366650.3:n.244-68C>G
NM_001164716.1:c.244-68C>G NP_001158188.1:n.244-68C>G
NM_005609.2:c.440C>G NP_005600.1:p.Ser147Cys
NM_005609.3:c.440C>G NP_005600.1:p.Ser147Cys
NM_005609.4:c.440C>G MANE Select NP_005600.1:p.Ser147Cys
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