Canonical Allele Identifier: CA2614192174
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64760013T>C , CM000673.2:g.64760013T>C GRCh38
NC_000011.9:g.64527485T>C , CM000673.1:g.64527485T>C GRCh37
NC_000011.8:g.64284061T>C NCBI36
NG_013018.1:g.5703A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.3:c.-115A>G ENSP00000164139.3:n.-115A>G
NM_001164716.1:c.-115A>G NP_001158188.1:n.-115A>G
NM_005609.2:c.-115A>G NP_005600.1:n.-115A>G
NM_005609.3:c.-115A>G NP_005600.1:n.-115A>G