Canonical Allele Identifier: CA381110741
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758516C>T , CM000673.2:g.64758516C>T GRCh38
NC_000011.9:g.64525988C>T , CM000673.1:g.64525988C>T GRCh37
NC_000011.8:g.64282564C>T NCBI36
NG_013018.1:g.7200G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.346-1G>A MANE Select ENSP00000164139.3:n.346-1G>A
ENST00000164139.3:c.346-1G>A ENSP00000164139.3:n.346-1G>A
ENST00000377432.7:c.244-250G>A ENSP00000366650.3:n.244-250G>A
NM_001164716.1:c.244-250G>A NP_001158188.1:n.244-250G>A
NM_005609.2:c.346-1G>A NP_005600.1:n.346-1G>A
NM_005609.3:c.346-1G>A NP_005600.1:n.346-1G>A
NM_005609.4:c.346-1G>A MANE Select NP_005600.1:n.346-1G>A