Canonical Allele Identifier: CA1978916156
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751397G= , CM000673.2:g.64751397G= GRCh38
NC_000011.9:g.64518869G= , CM000673.1:g.64518869G= GRCh37
NC_000011.8:g.64275445G= NCBI36
NG_013018.1:g.14319C=

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1897C= MANE Select ENSP00000164139.3:p.His633=
ENST00000164139.3:c.1897C= ENSP00000164139.3:p.His633=
ENST00000377432.7:c.1633C= ENSP00000366650.3:p.His545=
ENST00000462303.1:n.221C=
NM_001164716.1:c.1633C= NP_001158188.1:p.His545=
NM_005609.2:c.1897C= NP_005600.1:p.His633=
NM_005609.3:c.1897C= NP_005600.1:p.His633=
NM_005609.4:c.1897C= MANE Select NP_005600.1:p.His633=