Canonical Allele Identifier: CA381113026
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs777515712

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759822G>A , CM000673.2:g.64759822G>A GRCh38
NC_000011.9:g.64527294G>A , CM000673.1:g.64527294G>A GRCh37
NC_000011.8:g.64283870G>A NCBI36
NG_013018.1:g.5894C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.77C>T MANE Select ENSP00000164139.3:p.Thr26Ile
ENST00000164139.3:c.77C>T ENSP00000164139.3:p.Thr26Ile
ENST00000377432.7:c.77C>T ENSP00000366650.3:p.Thr26Ile
NM_001164716.1:c.77C>T NP_001158188.1:p.Thr26Ile
NM_005609.2:c.77C>T NP_005600.1:p.Thr26Ile
NM_005609.3:c.77C>T NP_005600.1:p.Thr26Ile
NM_005609.4:c.77C>T MANE Select NP_005600.1:p.Thr26Ile