Canonical Allele Identifier: CA381169126

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64518879A>T (hg19) ; chr11:g.64751407A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751407A>T , CM000673.2:g.64751407A>T	GRCh38
NC_000011.9:g.64518879A>T , CM000673.1:g.64518879A>T	GRCh37
NC_000011.8:g.64275455A>T	NCBI36
NG_013018.1:g.14309T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1887T>A MANE Select	ENSP00000164139.3:p.Asp629Glu
ENST00000164139.3:c.1887T>A	ENSP00000164139.3:p.Asp629Glu
ENST00000377432.7:c.1623T>A	ENSP00000366650.3:p.Asp541Glu
ENST00000462303.1:n.211T>A
NM_001164716.1:c.1623T>A	NP_001158188.1:p.Asp541Glu
NM_005609.2:c.1887T>A	NP_005600.1:p.Asp629Glu
NM_005609.3:c.1887T>A	NP_005600.1:p.Asp629Glu
NM_005609.4:c.1887T>A MANE Select	NP_005600.1:p.Asp629Glu