Canonical Allele Identifier: CA381167620
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750428A>T , CM000673.2:g.64750428A>T GRCh38
NC_000011.9:g.64517900A>T , CM000673.1:g.64517900A>T GRCh37
NC_000011.8:g.64274476A>T NCBI36
NG_007574.1:g.29T>A , LRG_100:g.29T>A
NG_013018.1:g.15288T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2125T>A MANE Select ENSP00000164139.3:p.Phe709Ile
ENST00000164139.3:c.2125T>A ENSP00000164139.3:p.Phe709Ile
ENST00000377432.7:c.1861T>A ENSP00000366650.3:p.Phe621Ile
NM_001164716.1:c.1861T>A NP_001158188.1:p.Phe621Ile
NM_005609.2:c.2125T>A NP_005600.1:p.Phe709Ile
NM_005609.3:c.2125T>A NP_005600.1:p.Phe709Ile
NM_005609.4:c.2125T>A MANE Select NP_005600.1:p.Phe709Ile