Canonical Allele Identifier: CA654193737

Gene: PYGM

Linked Data

• COSMIC: COSN22408055

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64752711A>G , CM000673.2:g.64752711A>G	GRCh38
NC_000011.9:g.64520183A>G , CM000673.1:g.64520183A>G	GRCh37
NC_000011.8:g.64276759A>G	NCBI36
NG_013018.1:g.13005T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1519-207T>C MANE Select	ENSP00000164139.3:n.1519-207T>C
ENST00000164139.3:c.1519-207T>C	ENSP00000164139.3:n.1519-207T>C
ENST00000377432.7:c.1255-207T>C	ENSP00000366650.3:n.1255-207T>C
NM_001164716.1:c.1255-207T>C	NP_001158188.1:n.1255-207T>C
NM_005609.2:c.1519-207T>C	NP_005600.1:n.1519-207T>C
NM_005609.3:c.1519-207T>C	NP_005600.1:n.1519-207T>C
NM_005609.4:c.1519-207T>C MANE Select	NP_005600.1:n.1519-207T>C