Canonical Allele Identifier: CA6080381
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1139413
ClinVar RCV Id: RCV001476128 RCV004546660
dbSNP Id: rs770037071
ExAC: 11:64527311 G / A
gnomAD v2: 11-64527311-G-A
gnomAD v3: 11-64759839-G-A
gnomAD v4: 11-64759839-G-A
MyVariant Identifiers: chr11:g.64527311G>A (hg19) chr11:g.64759839G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759839G>A , CM000673.2:g.64759839G>A GRCh38
NC_000011.9:g.64527311G>A , CM000673.1:g.64527311G>A GRCh37
NC_000011.8:g.64283887G>A NCBI36
NG_013018.1:g.5877C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.60C>T MANE Select ENSP00000164139.3:p.Ala20=
ENST00000164139.3:c.60C>T ENSP00000164139.3:p.Ala20=
ENST00000377432.7:c.60C>T ENSP00000366650.3:p.Ala20=
NM_001164716.1:c.60C>T NP_001158188.1:p.Ala20=
NM_005609.2:c.60C>T NP_005600.1:p.Ala20=
NM_005609.3:c.60C>T NP_005600.1:p.Ala20=
NM_005609.4:c.60C>T MANE Select NP_005600.1:p.Ala20=
Search 100 bp 5'
Search 100 bp 3'