Canonical Allele Identifier: CA2614192086
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759910G>A , CM000673.2:g.64759910G>A GRCh38
NC_000011.9:g.64527382G>A , CM000673.1:g.64527382G>A GRCh37
NC_000011.8:g.64283958G>A NCBI36
NG_013018.1:g.5806C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.-12C>T MANE Select ENSP00000164139.3:n.-12C>T
ENST00000164139.3:c.-12C>T ENSP00000164139.3:n.-12C>T
ENST00000377432.7:c.-12C>T ENSP00000366650.3:n.-12C>T
NM_001164716.1:c.-12C>T NP_001158188.1:n.-12C>T
NM_005609.2:c.-12C>T NP_005600.1:n.-12C>T
NM_005609.3:c.-12C>T NP_005600.1:n.-12C>T
NM_005609.4:c.-12C>T MANE Select NP_005600.1:n.-12C>T