Canonical Allele Identifier: CA1978918509

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64746975G= , CM000673.2:g.64746975G=	GRCh38
NC_000011.9:g.64514447G= , CM000673.1:g.64514447G=	GRCh37
NC_000011.8:g.64271023G=	NCBI36
NG_007574.1:g.3482C= , LRG_100:g.3482C=
NG_013018.1:g.18741C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2325C= MANE Select	ENSP00000164139.3:p.Phe775=
ENST00000164139.3:c.2325C=	ENSP00000164139.3:p.Phe775=
ENST00000377432.7:c.2061C=	ENSP00000366650.3:p.Phe687=
ENST00000483742.1:n.1678C=
NM_001164716.1:c.2061C=	NP_001158188.1:p.Phe687=
NM_005609.2:c.2325C=	NP_005600.1:p.Phe775=
NM_005609.3:c.2325C=	NP_005600.1:p.Phe775=
NM_005609.4:c.2325C= MANE Select	NP_005600.1:p.Phe775=