Canonical Allele Identifier: CA1978928251
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758330C= , CM000673.2:g.64758330C= GRCh38
NC_000011.9:g.64525802C= , CM000673.1:g.64525802C= GRCh37
NC_000011.8:g.64282378C= NCBI36
NG_013018.1:g.7386G=

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.444G= MANE Select ENSP00000164139.3:p.Met148=
ENST00000164139.3:c.444G= ENSP00000164139.3:p.Met148=
ENST00000377432.7:c.244-64G= ENSP00000366650.3:n.244-64G=
NM_001164716.1:c.244-64G= NP_001158188.1:n.244-64G=
NM_005609.2:c.444G= NP_005600.1:p.Met148=
NM_005609.3:c.444G= NP_005600.1:p.Met148=
NM_005609.4:c.444G= MANE Select NP_005600.1:p.Met148=