Canonical Allele Identifier: CA1978913498

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64750506T= , CM000673.2:g.64750506T=	GRCh38
NC_000011.9:g.64517978T= , CM000673.1:g.64517978T=	GRCh37
NC_000011.8:g.64274554T=	NCBI36
NG_013018.1:g.15210A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2047A= MANE Select	ENSP00000164139.3:p.Met683=
ENST00000164139.3:c.2047A=	ENSP00000164139.3:p.Met683=
ENST00000377432.7:c.1783A=	ENSP00000366650.3:p.Met595=
NM_001164716.1:c.1783A=	NP_001158188.1:p.Met595=
NM_005609.2:c.2047A=	NP_005600.1:p.Met683=
NM_005609.3:c.2047A=	NP_005600.1:p.Met683=
NM_005609.4:c.2047A= MANE Select	NP_005600.1:p.Met683=