Canonical Allele Identifier: CA381110729
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64525986A>C (hg19) chr11:g.64758514A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758514A>C , CM000673.2:g.64758514A>C GRCh38
NC_000011.9:g.64525986A>C , CM000673.1:g.64525986A>C GRCh37
NC_000011.8:g.64282562A>C NCBI36
NG_013018.1:g.7202T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.347T>G MANE Select ENSP00000164139.3:p.Leu116Arg
ENST00000164139.3:c.347T>G ENSP00000164139.3:p.Leu116Arg
ENST00000377432.7:c.244-248T>G ENSP00000366650.3:n.244-248T>G
NM_001164716.1:c.244-248T>G NP_001158188.1:n.244-248T>G
NM_005609.2:c.347T>G NP_005600.1:p.Leu116Arg
NM_005609.3:c.347T>G NP_005600.1:p.Leu116Arg
NM_005609.4:c.347T>G MANE Select NP_005600.1:p.Leu116Arg
Search 100 bp 5'
Search 100 bp 3'