Canonical Allele Identifier: CA2614192144
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759981C>T , CM000673.2:g.64759981C>T GRCh38
NC_000011.9:g.64527453C>T , CM000673.1:g.64527453C>T GRCh37
NC_000011.8:g.64284029C>T NCBI36
NG_013018.1:g.5735G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.3:c.-83G>A ENSP00000164139.3:n.-83G>A
NM_001164716.1:c.-83G>A NP_001158188.1:n.-83G>A
NM_005609.2:c.-83G>A NP_005600.1:n.-83G>A
NM_005609.3:c.-83G>A NP_005600.1:n.-83G>A