Canonical Allele Identifier: CA381112531
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759754G>A , CM000673.2:g.64759754G>A GRCh38
NC_000011.9:g.64527226G>A , CM000673.1:g.64527226G>A GRCh37
NC_000011.8:g.64283802G>A NCBI36
NG_013018.1:g.5962C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.145C>T MANE Select ENSP00000164139.3:p.Pro49Ser
ENST00000164139.3:c.145C>T ENSP00000164139.3:p.Pro49Ser
ENST00000377432.7:c.145C>T ENSP00000366650.3:p.Pro49Ser
NM_001164716.1:c.145C>T NP_001158188.1:p.Pro49Ser
NM_005609.2:c.145C>T NP_005600.1:p.Pro49Ser
NM_005609.3:c.145C>T NP_005600.1:p.Pro49Ser
NM_005609.4:c.145C>T MANE Select NP_005600.1:p.Pro49Ser