Canonical Allele Identifier: CA6079650
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs758730269
ExAC: 11:64517974 A / G
gnomAD v2: 11-64517974-A-G
gnomAD v4: 11-64750502-A-G
MyVariant Identifiers: chr11:g.64517974A>G (hg19) chr11:g.64750502A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750502A>G , CM000673.2:g.64750502A>G GRCh38
NC_000011.9:g.64517974A>G , CM000673.1:g.64517974A>G GRCh37
NC_000011.8:g.64274550A>G NCBI36
NG_013018.1:g.15214T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2051T>C MANE Select ENSP00000164139.3:p.Leu684Pro
ENST00000164139.3:c.2051T>C ENSP00000164139.3:p.Leu684Pro
ENST00000377432.7:c.1787T>C ENSP00000366650.3:p.Leu596Pro
NM_001164716.1:c.1787T>C NP_001158188.1:p.Leu596Pro
NM_005609.2:c.2051T>C NP_005600.1:p.Leu684Pro
NM_005609.3:c.2051T>C NP_005600.1:p.Leu684Pro
NM_005609.4:c.2051T>C MANE Select NP_005600.1:p.Leu684Pro
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