Canonical Allele Identifier: CA1978918601
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747010G= , CM000673.2:g.64747010G= GRCh38
NC_000011.9:g.64514482G= , CM000673.1:g.64514482G= GRCh37
NC_000011.8:g.64271058G= NCBI36
NG_007574.1:g.3447C= , LRG_100:g.3447C=
NG_013018.1:g.18706C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2313-23C= MANE Select ENSP00000164139.3:n.2313-23C=
ENST00000164139.3:c.2313-23C= ENSP00000164139.3:n.2313-23C=
ENST00000377432.7:c.2049-23C= ENSP00000366650.3:n.2049-23C=
ENST00000483742.1:n.1666-23C=
NM_001164716.1:c.2049-23C= NP_001158188.1:n.2049-23C=
NM_005609.2:c.2313-23C= NP_005600.1:n.2313-23C=
NM_005609.3:c.2313-23C= NP_005600.1:n.2313-23C=
NM_005609.4:c.2313-23C= MANE Select NP_005600.1:n.2313-23C=
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