Canonical Allele Identifier: CA475161415
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1142823
ClinVar RCV Id: RCV001480743
dbSNP Id: rs2135842875
gnomAD v4: 11-64759854-A-G
MyVariant Identifiers: chr11:g.64527326A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759854A>G , CM000673.2:g.64759854A>G GRCh38
NC_000011.9:g.64527326A>G , CM000673.1:g.64527326A>G GRCh37
NC_000011.8:g.64283902A>G NCBI36
NG_013018.1:g.5862T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.45T>C MANE Select ENSP00000164139.3:p.Ser15=
ENST00000164139.3:c.45T>C ENSP00000164139.3:p.Ser15=
ENST00000377432.7:c.45T>C ENSP00000366650.3:p.Ser15=
NM_001164716.1:c.45T>C NP_001158188.1:p.Ser15=
NM_005609.2:c.45T>C NP_005600.1:p.Ser15=
NM_005609.3:c.45T>C NP_005600.1:p.Ser15=
NM_005609.4:c.45T>C MANE Select NP_005600.1:p.Ser15=
Search 100 bp 5'
Search 100 bp 3'