Canonical Allele Identifier: CA2614192193
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64760026C>T , CM000673.2:g.64760026C>T GRCh38
NC_000011.9:g.64527498C>T , CM000673.1:g.64527498C>T GRCh37
NC_000011.8:g.64284074C>T NCBI36
NG_013018.1:g.5690G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.3:c.-128G>A ENSP00000164139.3:n.-128G>A
NM_001164716.1:c.-128G>A NP_001158188.1:n.-128G>A
NM_005609.2:c.-128G>A NP_005600.1:n.-128G>A
NM_005609.3:c.-128G>A NP_005600.1:n.-128G>A