Canonical Allele Identifier: CA2614192152
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759988C>A , CM000673.2:g.64759988C>A GRCh38
NC_000011.9:g.64527460C>A , CM000673.1:g.64527460C>A GRCh37
NC_000011.8:g.64284036C>A NCBI36
NG_013018.1:g.5728G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.3:c.-90G>T ENSP00000164139.3:n.-90G>T
NM_001164716.1:c.-90G>T NP_001158188.1:n.-90G>T
NM_005609.2:c.-90G>T NP_005600.1:n.-90G>T
NM_005609.3:c.-90G>T NP_005600.1:n.-90G>T