Canonical Allele Identifier: CA381167594
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64517896A>C (hg19) chr11:g.64750424A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750424A>C , CM000673.2:g.64750424A>C GRCh38
NC_000011.9:g.64517896A>C , CM000673.1:g.64517896A>C GRCh37
NC_000011.8:g.64274472A>C NCBI36
NG_007574.1:g.33T>G , LRG_100:g.33T>G
NG_013018.1:g.15292T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2129T>G MANE Select ENSP00000164139.3:p.Phe710Cys
ENST00000164139.3:c.2129T>G ENSP00000164139.3:p.Phe710Cys
ENST00000377432.7:c.1865T>G ENSP00000366650.3:p.Phe622Cys
NM_001164716.1:c.1865T>G NP_001158188.1:p.Phe622Cys
NM_005609.2:c.2129T>G NP_005600.1:p.Phe710Cys
NM_005609.3:c.2129T>G NP_005600.1:p.Phe710Cys
NM_005609.4:c.2129T>G MANE Select NP_005600.1:p.Phe710Cys
Search 100 bp 5'
Search 100 bp 3'