Canonical Allele Identifier: CA2598076837
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v3: 11-64752722-C-T
gnomAD v4: 11-64752722-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64752722C>T , CM000673.2:g.64752722C>T GRCh38
NC_000011.9:g.64520194C>T , CM000673.1:g.64520194C>T GRCh37
NC_000011.8:g.64276770C>T NCBI36
NG_013018.1:g.12994G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1519-218G>A MANE Select ENSP00000164139.3:n.1519-218G>A
ENST00000164139.3:c.1519-218G>A ENSP00000164139.3:n.1519-218G>A
ENST00000377432.7:c.1255-218G>A ENSP00000366650.3:n.1255-218G>A
NM_001164716.1:c.1255-218G>A NP_001158188.1:n.1255-218G>A
NM_005609.2:c.1519-218G>A NP_005600.1:n.1519-218G>A
NM_005609.3:c.1519-218G>A NP_005600.1:n.1519-218G>A
NM_005609.4:c.1519-218G>A MANE Select NP_005600.1:n.1519-218G>A
Search 100 bp 5'
Search 100 bp 3'