Canonical Allele Identifier: CA1978916204

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751415T= , CM000673.2:g.64751415T=	GRCh38
NC_000011.9:g.64518887T= , CM000673.1:g.64518887T=	GRCh37
NC_000011.8:g.64275463T=	NCBI36
NG_013018.1:g.14301A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.1879A= MANE Select	ENSP00000164139.3:p.Ile627=
ENST00000164139.3:c.1879A=	ENSP00000164139.3:p.Ile627=
ENST00000377432.7:c.1615A=	ENSP00000366650.3:p.Ile539=
ENST00000462303.1:n.203A=
NM_001164716.1:c.1615A=	NP_001158188.1:p.Ile539=
NM_005609.2:c.1879A=	NP_005600.1:p.Ile627=
NM_005609.3:c.1879A=	NP_005600.1:p.Ile627=
NM_005609.4:c.1879A= MANE Select	NP_005600.1:p.Ile627=