Canonical Allele Identifier: CA381167981
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64517974A>T (hg19) chr11:g.64750502A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750502A>T , CM000673.2:g.64750502A>T GRCh38
NC_000011.9:g.64517974A>T , CM000673.1:g.64517974A>T GRCh37
NC_000011.8:g.64274550A>T NCBI36
NG_013018.1:g.15214T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2051T>A MANE Select ENSP00000164139.3:p.Leu684His
ENST00000164139.3:c.2051T>A ENSP00000164139.3:p.Leu684His
ENST00000377432.7:c.1787T>A ENSP00000366650.3:p.Leu596His
NM_001164716.1:c.1787T>A NP_001158188.1:p.Leu596His
NM_005609.2:c.2051T>A NP_005600.1:p.Leu684His
NM_005609.3:c.2051T>A NP_005600.1:p.Leu684His
NM_005609.4:c.2051T>A MANE Select NP_005600.1:p.Leu684His
Search 100 bp 5'
Search 100 bp 3'