Canonical Allele Identifier: CA6080406
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1194091
ClinVar RCV Id: RCV001556702
dbSNP Id: rs187457841
ExAC: 11:64527394 T / C
gnomAD v2: 11-64527394-T-C
gnomAD v3: 11-64759922-T-C
gnomAD v4: 11-64759922-T-C
MyVariant Identifiers: chr11:g.64527394T>C (hg19) chr11:g.64759922T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759922T>C , CM000673.2:g.64759922T>C GRCh38
NC_000011.9:g.64527394T>C , CM000673.1:g.64527394T>C GRCh37
NC_000011.8:g.64283970T>C NCBI36
NG_013018.1:g.5794A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.-24A>G MANE Select ENSP00000164139.3:n.-24A>G
ENST00000164139.3:c.-24A>G ENSP00000164139.3:n.-24A>G
ENST00000377432.7:c.-24A>G ENSP00000366650.3:n.-24A>G
NM_001164716.1:c.-24A>G NP_001158188.1:n.-24A>G
NM_005609.2:c.-24A>G NP_005600.1:n.-24A>G
NM_005609.3:c.-24A>G NP_005600.1:n.-24A>G
NM_005609.4:c.-24A>G MANE Select NP_005600.1:n.-24A>G
Search 100 bp 5'
Search 100 bp 3'