Canonical Allele Identifier: CA252209
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2309
ClinVar RCV Id: RCV000002399 RCV001579810
dbSNP Id: rs267606993
ExAC: 11:64527370 T / C
gnomAD v2: 11-64527370-T-C
gnomAD v4: 11-64759898-T-C
MyVariant Identifiers: chr11:g.64527370T>C (hg19) chr11:g.64759898T>C (hg38)
PubMed: PMID:9506549 PMID:19670320 PMID:21802952 PMID:25740218
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759898T>C , CM000673.2:g.64759898T>C GRCh38
NC_000011.9:g.64527370T>C , CM000673.1:g.64527370T>C GRCh37
NC_000011.8:g.64283946T>C NCBI36
NG_013018.1:g.5818A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1A>G MANE Select ENSP00000164139.3:p.Met1Val
ENST00000164139.3:c.1A>G ENSP00000164139.3:p.Met1Val
ENST00000377432.7:c.1A>G ENSP00000366650.3:p.Met1Val
NM_001164716.1:c.1A>G NP_001158188.1:p.Met1Val
NM_005609.2:c.1A>G NP_005600.1:p.Met1Val
NM_005609.3:c.1A>G NP_005600.1:p.Met1Val
NM_005609.4:c.1A>G MANE Select NP_005600.1:p.Met1Val
Search 100 bp 5'
Search 100 bp 3'