Canonical Allele Identifier: CA2563487690

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759630C>A , CM000673.2:g.64759630C>A	GRCh38
NC_000011.9:g.64527102C>A , CM000673.1:g.64527102C>A	GRCh37
NC_000011.8:g.64283678C>A	NCBI36
NG_013018.1:g.6086G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.243+26G>T MANE Select	ENSP00000164139.3:n.243+26G>T
ENST00000164139.3:c.243+26G>T	ENSP00000164139.3:n.243+26G>T
ENST00000377432.7:c.243+26G>T	ENSP00000366650.3:n.243+26G>T
NM_001164716.1:c.243+26G>T	NP_001158188.1:n.243+26G>T
NM_005609.2:c.243+26G>T	NP_005600.1:n.243+26G>T
NM_005609.3:c.243+26G>T	NP_005600.1:n.243+26G>T
NM_005609.4:c.243+26G>T MANE Select	NP_005600.1:n.243+26G>T