Canonical Allele Identifier: CA240092
Gene: PYGM HGNC NCBI
ClinVar RCV:
RCV000509394
RCV000675632
RCV001849178
RCV003330533
RCV003430725
ClinVar Variation:
194233
dbSNP:
139570786
gnomAD v2:
11:64519958 T / C
gnomAD v3:
11:64752486 T / C
gnomAD v4:
chr11-64752486-T-C
Joint Max Group AF 0.00301163 (NFE)
Genomes Max Group AF 0.00313386 (NFE)
Exomes Max Group AF 0.00298466 (NFE)
MyVariant.info:
GRCh38 chr11:g.64752486T>C
GRCh37 chr11:g.64519958T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64752486T>C , CM000673.2:g.64752486T>C GRCh38
NC_000011.9:g.64519958T>C , CM000673.1:g.64519958T>C GRCh37
NC_000011.8:g.64276534T>C NCBI36
NG_013018.1:g.13230A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1537A>G MANE Select ENSP00000164139.3:p.Ile513Val
ENST00000164139.3:c.1537A>G ENSP00000164139.3:p.Ile513Val
ENST00000377432.7:c.1273A>G ENSP00000366650.3:p.Ile425Val
NM_001164716.1:c.1273A>G NP_001158188.1:p.Ile425Val
NM_005609.2:c.1537A>G NP_005600.1:p.Ile513Val
NM_005609.3:c.1537A>G NP_005600.1:p.Ile513Val
NM_005609.4:c.1537A>G MANE Select NP_005600.1:p.Ile513Val
Search 100 bp 5'
Search 100 bp 3'