Canonical Allele Identifier: CA2513620177

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751713T>A , CM000673.2:g.64751713T>A	GRCh38
NC_000011.9:g.64519185T>A , CM000673.1:g.64519185T>A	GRCh37
NC_000011.8:g.64275761T>A	NCBI36
NG_013018.1:g.14003A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1769-58A>T MANE Select	ENSP00000164139.3:n.1769-58A>T
ENST00000164139.3:c.1769-58A>T	ENSP00000164139.3:n.1769-58A>T
ENST00000377432.7:c.1505-58A>T	ENSP00000366650.3:n.1505-58A>T
ENST00000462303.1:n.93-58A>T
NM_001164716.1:c.1505-58A>T	NP_001158188.1:n.1505-58A>T
NM_005609.2:c.1769-58A>T	NP_005600.1:n.1769-58A>T
NM_005609.3:c.1769-58A>T	NP_005600.1:n.1769-58A>T
NM_005609.4:c.1769-58A>T MANE Select	NP_005600.1:n.1769-58A>T