Canonical Allele Identifier: CA222890
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 95297
ClinVar RCV Id: RCV000081313 RCV000675627 RCV001104843
dbSNP Id: rs139230055
ExAC: 11:64514213 C / T
gnomAD v2: 11-64514213-C-T
gnomAD v3: 11-64746741-C-T
gnomAD v4: 11-64746741-C-T
MyVariant Identifiers: chr11:g.64514213C>T (hg19) chr11:g.64746741C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64746741C>T , CM000673.2:g.64746741C>T GRCh38
NC_000011.9:g.64514213C>T , CM000673.1:g.64514213C>T GRCh37
NC_000011.8:g.64270789C>T NCBI36
NG_007574.1:g.3716G>A , LRG_100:g.3716G>A
NG_013018.1:g.18975G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2447G>A MANE Select ENSP00000164139.3:p.Arg816His
ENST00000164139.3:c.2447G>A ENSP00000164139.3:p.Arg816His
ENST00000377432.7:c.2183G>A ENSP00000366650.3:p.Arg728His
ENST00000483742.1:n.1800G>A
NM_001164716.1:c.2183G>A NP_001158188.1:p.Arg728His
NM_005609.2:c.2447G>A NP_005600.1:p.Arg816His
NM_005609.3:c.2447G>A NP_005600.1:p.Arg816His
NM_005609.4:c.2447G>A MANE Select NP_005600.1:p.Arg816His
Search 100 bp 5'
Search 100 bp 3'