Canonical Allele Identifier: CA1978913502

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64750507G= , CM000673.2:g.64750507G=	GRCh38
NC_000011.9:g.64517979G= , CM000673.1:g.64517979G=	GRCh37
NC_000011.8:g.64274555G=	NCBI36
NG_013018.1:g.15209C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2046C= MANE Select	ENSP00000164139.3:p.Phe682=
ENST00000164139.3:c.2046C=	ENSP00000164139.3:p.Phe682=
ENST00000377432.7:c.1782C=	ENSP00000366650.3:p.Phe594=
NM_001164716.1:c.1782C=	NP_001158188.1:p.Phe594=
NM_005609.2:c.2046C=	NP_005600.1:p.Phe682=
NM_005609.3:c.2046C=	NP_005600.1:p.Phe682=
NM_005609.4:c.2046C= MANE Select	NP_005600.1:p.Phe682=