Canonical Allele Identifier: CA381167994
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1376064042
gnomAD v4: 11-64750507-G-C
MyVariant Identifiers: chr11:g.64517979G>C (hg19) chr11:g.64750507G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750507G>C , CM000673.2:g.64750507G>C GRCh38
NC_000011.9:g.64517979G>C , CM000673.1:g.64517979G>C GRCh37
NC_000011.8:g.64274555G>C NCBI36
NG_013018.1:g.15209C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2046C>G MANE Select ENSP00000164139.3:p.Phe682Leu
ENST00000164139.3:c.2046C>G ENSP00000164139.3:p.Phe682Leu
ENST00000377432.7:c.1782C>G ENSP00000366650.3:p.Phe594Leu
NM_001164716.1:c.1782C>G NP_001158188.1:p.Phe594Leu
NM_005609.2:c.2046C>G NP_005600.1:p.Phe682Leu
NM_005609.3:c.2046C>G NP_005600.1:p.Phe682Leu
NM_005609.4:c.2046C>G MANE Select NP_005600.1:p.Phe682Leu
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