Canonical Allele Identifier: CA1978919281

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747293C= , CM000673.2:g.64747293C=	GRCh38
NC_000011.9:g.64514765C= , CM000673.1:g.64514765C=	GRCh37
NC_000011.8:g.64271341C=	NCBI36
NG_007574.1:g.3164G= , LRG_100:g.3164G=
NG_013018.1:g.18423G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.2243G= MANE Select	ENSP00000164139.3:p.Ser748=
ENST00000164139.3:c.2243G=	ENSP00000164139.3:p.Ser748=
ENST00000377432.7:c.1979G=	ENSP00000366650.3:p.Ser660=
ENST00000483742.1:n.1596G=
NM_001164716.1:c.1979G=	NP_001158188.1:p.Ser660=
NM_005609.2:c.2243G=	NP_005600.1:p.Ser748=
NM_005609.3:c.2243G=	NP_005600.1:p.Ser748=
NM_005609.4:c.2243G= MANE Select	NP_005600.1:p.Ser748=