Canonical Allele Identifier: CA1978918801
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747148G= , CM000673.2:g.64747148G= GRCh38
NC_000011.9:g.64514620G= , CM000673.1:g.64514620G= GRCh37
NC_000011.8:g.64271196G= NCBI36
NG_007574.1:g.3309C= , LRG_100:g.3309C=
NG_013018.1:g.18568C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2312+76C= MANE Select ENSP00000164139.3:n.2312+76C=
ENST00000164139.3:c.2312+76C= ENSP00000164139.3:n.2312+76C=
ENST00000377432.7:c.2048+76C= ENSP00000366650.3:n.2048+76C=
ENST00000483742.1:n.1665+76C=
NM_001164716.1:c.2048+76C= NP_001158188.1:n.2048+76C=
NM_005609.2:c.2312+76C= NP_005600.1:n.2312+76C=
NM_005609.3:c.2312+76C= NP_005600.1:n.2312+76C=
NM_005609.4:c.2312+76C= MANE Select NP_005600.1:n.2312+76C=
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