Canonical Allele Identifier: CA1978920773
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753396C= , CM000673.2:g.64753396C= GRCh38
NC_000011.9:g.64520868C= , CM000673.1:g.64520868C= GRCh37
NC_000011.8:g.64277444C= NCBI36
NG_013018.1:g.12320G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1403+123G= MANE Select ENSP00000164139.3:n.1403+123G=
ENST00000164139.3:c.1403+123G= ENSP00000164139.3:n.1403+123G=
ENST00000377432.7:c.1139+123G= ENSP00000366650.3:n.1139+123G=
NM_001164716.1:c.1139+123G= NP_001158188.1:n.1139+123G=
NM_005609.2:c.1403+123G= NP_005600.1:n.1403+123G=
NM_005609.3:c.1403+123G= NP_005600.1:n.1403+123G=
NM_005609.4:c.1403+123G= MANE Select NP_005600.1:n.1403+123G=
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