Canonical Allele Identifier: CA6079684
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1179912
ClinVar RCV Id: RCV001536996 RCV001826385
dbSNP Id: rs137986928
ExAC: 11:64518881 C / A
gnomAD v2: 11-64518881-C-A
gnomAD v3: 11-64751409-C-A
gnomAD v4: 11-64751409-C-A
MyVariant Identifiers: chr11:g.64518881C>A (hg19) chr11:g.64751409C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751409C>A , CM000673.2:g.64751409C>A GRCh38
NC_000011.9:g.64518881C>A , CM000673.1:g.64518881C>A GRCh37
NC_000011.8:g.64275457C>A NCBI36
NG_013018.1:g.14307G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1885G>T MANE Select ENSP00000164139.3:p.Asp629Tyr
ENST00000164139.3:c.1885G>T ENSP00000164139.3:p.Asp629Tyr
ENST00000377432.7:c.1621G>T ENSP00000366650.3:p.Asp541Tyr
ENST00000462303.1:n.209G>T
NM_001164716.1:c.1621G>T NP_001158188.1:p.Asp541Tyr
NM_005609.2:c.1885G>T NP_005600.1:p.Asp629Tyr
NM_005609.3:c.1885G>T NP_005600.1:p.Asp629Tyr
NM_005609.4:c.1885G>T MANE Select NP_005600.1:p.Asp629Tyr
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