Canonical Allele Identifier: CA381175720
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64521018A>T (hg19) chr11:g.64753546A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753546A>T , CM000673.2:g.64753546A>T GRCh38
NC_000011.9:g.64521018A>T , CM000673.1:g.64521018A>T GRCh37
NC_000011.8:g.64277594A>T NCBI36
NG_013018.1:g.12170T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1376T>A MANE Select ENSP00000164139.3:p.Ile459Asn
ENST00000164139.3:c.1376T>A ENSP00000164139.3:p.Ile459Asn
ENST00000377432.7:c.1112T>A ENSP00000366650.3:p.Ile371Asn
NM_001164716.1:c.1112T>A NP_001158188.1:p.Ile371Asn
NM_005609.2:c.1376T>A NP_005600.1:p.Ile459Asn
NM_005609.3:c.1376T>A NP_005600.1:p.Ile459Asn
NM_005609.4:c.1376T>A MANE Select NP_005600.1:p.Ile459Asn
Search 100 bp 5'
Search 100 bp 3'