Canonical Allele Identifier: CA6080377
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs146845353
ExAC: 11:64527298 C / T
gnomAD v2: 11-64527298-C-T
gnomAD v3: 11-64759826-C-T
gnomAD v4: 11-64759826-C-T
MyVariant Identifiers: chr11:g.64527298C>T (hg19) chr11:g.64759826C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759826C>T , CM000673.2:g.64759826C>T GRCh38
NC_000011.9:g.64527298C>T , CM000673.1:g.64527298C>T GRCh37
NC_000011.8:g.64283874C>T NCBI36
NG_013018.1:g.5890G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.73G>A MANE Select ENSP00000164139.3:p.Val25Met
ENST00000164139.3:c.73G>A ENSP00000164139.3:p.Val25Met
ENST00000377432.7:c.73G>A ENSP00000366650.3:p.Val25Met
NM_001164716.1:c.73G>A NP_001158188.1:p.Val25Met
NM_005609.2:c.73G>A NP_005600.1:p.Val25Met
NM_005609.3:c.73G>A NP_005600.1:p.Val25Met
NM_005609.4:c.73G>A MANE Select NP_005600.1:p.Val25Met
Search 100 bp 5'
Search 100 bp 3'