Canonical Allele Identifier: CA381165446

Gene: PYGM

Linked Data

• gnomAD v4: 11-64747292-A-T
• MyVariant Identifiers: chr11:g.64514764A>T (hg19) ; chr11:g.64747292A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747292A>T , CM000673.2:g.64747292A>T	GRCh38
NC_000011.9:g.64514764A>T , CM000673.1:g.64514764A>T	GRCh37
NC_000011.8:g.64271340A>T	NCBI36
NG_007574.1:g.3165T>A , LRG_100:g.3165T>A
NG_013018.1:g.18424T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.2244T>A MANE Select	ENSP00000164139.3:p.Ser748Arg
ENST00000164139.3:c.2244T>A	ENSP00000164139.3:p.Ser748Arg
ENST00000377432.7:c.1980T>A	ENSP00000366650.3:p.Ser660Arg
ENST00000483742.1:n.1597T>A
NM_001164716.1:c.1980T>A	NP_001158188.1:p.Ser660Arg
NM_005609.2:c.2244T>A	NP_005600.1:p.Ser748Arg
NM_005609.3:c.2244T>A	NP_005600.1:p.Ser748Arg
NM_005609.4:c.2244T>A MANE Select	NP_005600.1:p.Ser748Arg