Canonical Allele Identifier: CA1978913526

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64750510C= , CM000673.2:g.64750510C=	GRCh38
NC_000011.9:g.64517982C= , CM000673.1:g.64517982C=	GRCh37
NC_000011.8:g.64274558C=	NCBI36
NG_013018.1:g.15206G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2043G= MANE Select	ENSP00000164139.3:p.Lys681=
ENST00000164139.3:c.2043G=	ENSP00000164139.3:p.Lys681=
ENST00000377432.7:c.1779G=	ENSP00000366650.3:p.Lys593=
NM_001164716.1:c.1779G=	NP_001158188.1:p.Lys593=
NM_005609.2:c.2043G=	NP_005600.1:p.Lys681=
NM_005609.3:c.2043G=	NP_005600.1:p.Lys681=
NM_005609.4:c.2043G= MANE Select	NP_005600.1:p.Lys681=