Canonical Allele Identifier: CA1978916281

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751431G= , CM000673.2:g.64751431G=	GRCh38
NC_000011.9:g.64518903G= , CM000673.1:g.64518903G=	GRCh37
NC_000011.8:g.64275479G=	NCBI36
NG_013018.1:g.14285C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.1863C= MANE Select	ENSP00000164139.3:p.Ile621=
ENST00000164139.3:c.1863C=	ENSP00000164139.3:p.Ile621=
ENST00000377432.7:c.1599C=	ENSP00000366650.3:p.Ile533=
ENST00000462303.1:n.187C=
NM_001164716.1:c.1599C=	NP_001158188.1:p.Ile533=
NM_005609.2:c.1863C=	NP_005600.1:p.Ile621=
NM_005609.3:c.1863C=	NP_005600.1:p.Ile621=
NM_005609.4:c.1863C= MANE Select	NP_005600.1:p.Ile621=