Canonical Allele Identifier: CA381169165
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64751415-T-C
MyVariant Identifiers: chr11:g.64518887T>C (hg19) chr11:g.64751415T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751415T>C , CM000673.2:g.64751415T>C GRCh38
NC_000011.9:g.64518887T>C , CM000673.1:g.64518887T>C GRCh37
NC_000011.8:g.64275463T>C NCBI36
NG_013018.1:g.14301A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1879A>G MANE Select ENSP00000164139.3:p.Ile627Val
ENST00000164139.3:c.1879A>G ENSP00000164139.3:p.Ile627Val
ENST00000377432.7:c.1615A>G ENSP00000366650.3:p.Ile539Val
ENST00000462303.1:n.203A>G
NM_001164716.1:c.1615A>G NP_001158188.1:p.Ile539Val
NM_005609.2:c.1879A>G NP_005600.1:p.Ile627Val
NM_005609.3:c.1879A>G NP_005600.1:p.Ile627Val
NM_005609.4:c.1879A>G MANE Select NP_005600.1:p.Ile627Val
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