Canonical Allele Identifier: CA1978918708
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747080C= , CM000673.2:g.64747080C= GRCh38
NC_000011.9:g.64514552C= , CM000673.1:g.64514552C= GRCh37
NC_000011.8:g.64271128C= NCBI36
NG_007574.1:g.3377G= , LRG_100:g.3377G=
NG_013018.1:g.18636G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2313-93G= MANE Select ENSP00000164139.3:n.2313-93G=
ENST00000164139.3:c.2313-93G= ENSP00000164139.3:n.2313-93G=
ENST00000377432.7:c.2049-93G= ENSP00000366650.3:n.2049-93G=
ENST00000483742.1:n.1666-93G=
NM_001164716.1:c.2049-93G= NP_001158188.1:n.2049-93G=
NM_005609.2:c.2313-93G= NP_005600.1:n.2313-93G=
NM_005609.3:c.2313-93G= NP_005600.1:n.2313-93G=
NM_005609.4:c.2313-93G= MANE Select NP_005600.1:n.2313-93G=