Canonical Allele Identifier: CA381165429

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64514764A>C (hg19) ; chr11:g.64747292A>C (hg38)

Genomic Alleles

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

Transcript Alleles

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