Canonical Allele Identifier: CA1978919812
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747499A= , CM000673.2:g.64747499A= GRCh38
NC_000011.9:g.64514971A= , CM000673.1:g.64514971A= GRCh37
NC_000011.8:g.64271547A= NCBI36
NG_007574.1:g.2958T= , LRG_100:g.2958T=
NG_013018.1:g.18217T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2178-141T= MANE Select ENSP00000164139.3:n.2178-141T=
ENST00000164139.3:c.2178-141T= ENSP00000164139.3:n.2178-141T=
ENST00000377432.7:c.1914-141T= ENSP00000366650.3:n.1914-141T=
ENST00000483742.1:n.1390T=
NM_001164716.1:c.1914-141T= NP_001158188.1:n.1914-141T=
NM_005609.2:c.2178-141T= NP_005600.1:n.2178-141T=
NM_005609.3:c.2178-141T= NP_005600.1:n.2178-141T=
NM_005609.4:c.2178-141T= MANE Select NP_005600.1:n.2178-141T=