Canonical Allele Identifier: CA2840305690

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759602G>T , CM000673.2:g.64759602G>T	GRCh38
NC_000011.9:g.64527074G>T , CM000673.1:g.64527074G>T	GRCh37
NC_000011.8:g.64283650G>T	NCBI36
NG_013018.1:g.6114C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.243+54C>A MANE Select	ENSP00000164139.3:n.243+54C>A
ENST00000164139.3:c.243+54C>A	ENSP00000164139.3:n.243+54C>A
ENST00000377432.7:c.243+54C>A	ENSP00000366650.3:n.243+54C>A
NM_001164716.1:c.243+54C>A	NP_001158188.1:n.243+54C>A
NM_005609.2:c.243+54C>A	NP_005600.1:n.243+54C>A
NM_005609.3:c.243+54C>A	NP_005600.1:n.243+54C>A
NM_005609.4:c.243+54C>A MANE Select	NP_005600.1:n.243+54C>A