Canonical Allele Identifier: CA2532139432

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64752754T>C , CM000673.2:g.64752754T>C	GRCh38
NC_000011.9:g.64520226T>C , CM000673.1:g.64520226T>C	GRCh37
NC_000011.8:g.64276802T>C	NCBI36
NG_013018.1:g.12962A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1519-250A>G MANE Select	ENSP00000164139.3:n.1519-250A>G
ENST00000164139.3:c.1519-250A>G	ENSP00000164139.3:n.1519-250A>G
ENST00000377432.7:c.1255-250A>G	ENSP00000366650.3:n.1255-250A>G
NM_001164716.1:c.1255-250A>G	NP_001158188.1:n.1255-250A>G
NM_005609.2:c.1519-250A>G	NP_005600.1:n.1519-250A>G
NM_005609.3:c.1519-250A>G	NP_005600.1:n.1519-250A>G
NM_005609.4:c.1519-250A>G MANE Select	NP_005600.1:n.1519-250A>G