Canonical Allele Identifier: CA2614192141
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759976G>C , CM000673.2:g.64759976G>C GRCh38
NC_000011.9:g.64527448G>C , CM000673.1:g.64527448G>C GRCh37
NC_000011.8:g.64284024G>C NCBI36
NG_013018.1:g.5740C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.3:c.-78C>G ENSP00000164139.3:n.-78C>G
NM_001164716.1:c.-78C>G NP_001158188.1:n.-78C>G
NM_005609.2:c.-78C>G NP_005600.1:n.-78C>G
NM_005609.3:c.-78C>G NP_005600.1:n.-78C>G