Canonical Allele Identifier: CA381169091
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64518872T>G (hg19) chr11:g.64751400T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751400T>G , CM000673.2:g.64751400T>G GRCh38
NC_000011.9:g.64518872T>G , CM000673.1:g.64518872T>G GRCh37
NC_000011.8:g.64275448T>G NCBI36
NG_013018.1:g.14316A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1894A>C MANE Select ENSP00000164139.3:p.Asn632His
ENST00000164139.3:c.1894A>C ENSP00000164139.3:p.Asn632His
ENST00000377432.7:c.1630A>C ENSP00000366650.3:p.Asn544His
ENST00000462303.1:n.218A>C
NM_001164716.1:c.1630A>C NP_001158188.1:p.Asn544His
NM_005609.2:c.1894A>C NP_005600.1:p.Asn632His
NM_005609.3:c.1894A>C NP_005600.1:p.Asn632His
NM_005609.4:c.1894A>C MANE Select NP_005600.1:p.Asn632His
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