Canonical Allele Identifier: CA381165461
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64747294-T-C
MyVariant Identifiers: chr11:g.64514766T>C (hg19) chr11:g.64747294T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747294T>C , CM000673.2:g.64747294T>C GRCh38
NC_000011.9:g.64514766T>C , CM000673.1:g.64514766T>C GRCh37
NC_000011.8:g.64271342T>C NCBI36
NG_007574.1:g.3163A>G , LRG_100:g.3163A>G
NG_013018.1:g.18422A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2242A>G MANE Select ENSP00000164139.3:p.Ser748Gly
ENST00000164139.3:c.2242A>G ENSP00000164139.3:p.Ser748Gly
ENST00000377432.7:c.1978A>G ENSP00000366650.3:p.Ser660Gly
ENST00000483742.1:n.1595A>G
NM_001164716.1:c.1978A>G NP_001158188.1:p.Ser660Gly
NM_005609.2:c.2242A>G NP_005600.1:p.Ser748Gly
NM_005609.3:c.2242A>G NP_005600.1:p.Ser748Gly
NM_005609.4:c.2242A>G MANE Select NP_005600.1:p.Ser748Gly
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