Canonical Allele Identifier: CA1978921138

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753551C= , CM000673.2:g.64753551C=	GRCh38
NC_000011.9:g.64521023C= , CM000673.1:g.64521023C=	GRCh37
NC_000011.8:g.64277599C=	NCBI36
NG_013018.1:g.12165G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1371G= MANE Select	ENSP00000164139.3:p.Ala457=
ENST00000164139.3:c.1371G=	ENSP00000164139.3:p.Ala457=
ENST00000377432.7:c.1107G=	ENSP00000366650.3:p.Ala369=
NM_001164716.1:c.1107G=	NP_001158188.1:p.Ala369=
NM_005609.2:c.1371G=	NP_005600.1:p.Ala457=
NM_005609.3:c.1371G=	NP_005600.1:p.Ala457=
NM_005609.4:c.1371G= MANE Select	NP_005600.1:p.Ala457=