Canonical Allele Identifier: CA1978928506
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758595A= , CM000673.2:g.64758595A= GRCh38
NC_000011.9:g.64526067A= , CM000673.1:g.64526067A= GRCh37
NC_000011.8:g.64282643A= NCBI36
NG_013018.1:g.7121T=

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.345+8T= MANE Select ENSP00000164139.3:n.345+8T=
ENST00000164139.3:c.345+8T= ENSP00000164139.3:n.345+8T=
ENST00000377432.7:c.244-329T= ENSP00000366650.3:n.244-329T=
NM_001164716.1:c.244-329T= NP_001158188.1:n.244-329T=
NM_005609.2:c.345+8T= NP_005600.1:n.345+8T=
NM_005609.3:c.345+8T= NP_005600.1:n.345+8T=
NM_005609.4:c.345+8T= MANE Select NP_005600.1:n.345+8T=