Canonical Allele Identifier: CA381165251
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747270G>A , CM000673.2:g.64747270G>A GRCh38
NC_000011.9:g.64514742G>A , CM000673.1:g.64514742G>A GRCh37
NC_000011.8:g.64271318G>A NCBI36
NG_007574.1:g.3187C>T , LRG_100:g.3187C>T
NG_013018.1:g.18446C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2266C>T MANE Select ENSP00000164139.3:p.Pro756Ser
ENST00000164139.3:c.2266C>T ENSP00000164139.3:p.Pro756Ser
ENST00000377432.7:c.2002C>T ENSP00000366650.3:p.Pro668Ser
ENST00000483742.1:n.1619C>T
NM_001164716.1:c.2002C>T NP_001158188.1:p.Pro668Ser
NM_005609.2:c.2266C>T NP_005600.1:p.Pro756Ser
NM_005609.3:c.2266C>T NP_005600.1:p.Pro756Ser
NM_005609.4:c.2266C>T MANE Select NP_005600.1:p.Pro756Ser