Canonical Allele Identifier: CA381164530

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64514442T>A (hg19) ; chr11:g.64746970T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64746970T>A , CM000673.2:g.64746970T>A	GRCh38
NC_000011.9:g.64514442T>A , CM000673.1:g.64514442T>A	GRCh37
NC_000011.8:g.64271018T>A	NCBI36
NG_007574.1:g.3487A>T , LRG_100:g.3487A>T
NG_013018.1:g.18746A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2330A>T MANE Select	ENSP00000164139.3:p.Asp777Val
ENST00000164139.3:c.2330A>T	ENSP00000164139.3:p.Asp777Val
ENST00000377432.7:c.2066A>T	ENSP00000366650.3:p.Asp689Val
ENST00000483742.1:n.1683A>T
NM_001164716.1:c.2066A>T	NP_001158188.1:p.Asp689Val
NM_005609.2:c.2330A>T	NP_005600.1:p.Asp777Val
NM_005609.3:c.2330A>T	NP_005600.1:p.Asp777Val
NM_005609.4:c.2330A>T MANE Select	NP_005600.1:p.Asp777Val