Canonical Allele Identifier: CA1978919313

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747307A= , CM000673.2:g.64747307A=	GRCh38
NC_000011.9:g.64514779A= , CM000673.1:g.64514779A=	GRCh37
NC_000011.8:g.64271355A=	NCBI36
NG_007574.1:g.3150T= , LRG_100:g.3150T=
NG_013018.1:g.18409T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2229T= MANE Select	ENSP00000164139.3:p.Ile743=
ENST00000164139.3:c.2229T=	ENSP00000164139.3:p.Ile743=
ENST00000377432.7:c.1965T=	ENSP00000366650.3:p.Ile655=
ENST00000483742.1:n.1582T=
NM_001164716.1:c.1965T=	NP_001158188.1:p.Ile655=
NM_005609.2:c.2229T=	NP_005600.1:p.Ile743=
NM_005609.3:c.2229T=	NP_005600.1:p.Ile743=
NM_005609.4:c.2229T= MANE Select	NP_005600.1:p.Ile743=