Canonical Allele Identifier: CA2614192126
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64759959-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759959C>G , CM000673.2:g.64759959C>G GRCh38
NC_000011.9:g.64527431C>G , CM000673.1:g.64527431C>G GRCh37
NC_000011.8:g.64284007C>G NCBI36
NG_013018.1:g.5757G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.-61G>C MANE Select ENSP00000164139.3:n.-61G>C
ENST00000164139.3:c.-61G>C ENSP00000164139.3:n.-61G>C
ENST00000377432.7:c.-61G>C ENSP00000366650.3:n.-61G>C
NM_001164716.1:c.-61G>C NP_001158188.1:n.-61G>C
NM_005609.2:c.-61G>C NP_005600.1:n.-61G>C
NM_005609.3:c.-61G>C NP_005600.1:n.-61G>C
NM_005609.4:c.-61G>C MANE Select NP_005600.1:n.-61G>C
Search 100 bp 5'
Search 100 bp 3'