Canonical Allele Identifier: CA474958893
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64751401-G-T
MyVariant Identifiers: chr11:g.64518873G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751401G>T , CM000673.2:g.64751401G>T GRCh38
NC_000011.9:g.64518873G>T , CM000673.1:g.64518873G>T GRCh37
NC_000011.8:g.64275449G>T NCBI36
NG_013018.1:g.14315C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1893C>A MANE Select ENSP00000164139.3:p.Val631=
ENST00000164139.3:c.1893C>A ENSP00000164139.3:p.Val631=
ENST00000377432.7:c.1629C>A ENSP00000366650.3:p.Val543=
ENST00000462303.1:n.217C>A
NM_001164716.1:c.1629C>A NP_001158188.1:p.Val543=
NM_005609.2:c.1893C>A NP_005600.1:p.Val631=
NM_005609.3:c.1893C>A NP_005600.1:p.Val631=
NM_005609.4:c.1893C>A MANE Select NP_005600.1:p.Val631=
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