Canonical Allele Identifier: CA381175732
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1984097
ClinVar RCV Id: RCV002775331
dbSNP Id: rs2058371309
gnomAD v3: 11-64753553-C-T
gnomAD v4: 11-64753553-C-T
MyVariant Identifiers: chr11:g.64521025C>T (hg19) chr11:g.64753553C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753553C>T , CM000673.2:g.64753553C>T GRCh38
NC_000011.9:g.64521025C>T , CM000673.1:g.64521025C>T GRCh37
NC_000011.8:g.64277601C>T NCBI36
NG_013018.1:g.12163G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1369G>A MANE Select ENSP00000164139.3:p.Ala457Thr
ENST00000164139.3:c.1369G>A ENSP00000164139.3:p.Ala457Thr
ENST00000377432.7:c.1105G>A ENSP00000366650.3:p.Ala369Thr
NM_001164716.1:c.1105G>A NP_001158188.1:p.Ala369Thr
NM_005609.2:c.1369G>A NP_005600.1:p.Ala457Thr
NM_005609.3:c.1369G>A NP_005600.1:p.Ala457Thr
NM_005609.4:c.1369G>A MANE Select NP_005600.1:p.Ala457Thr
Search 100 bp 5'
Search 100 bp 3'