Canonical Allele Identifier: CA6079687
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs753510042
ExAC: 11:64518886 A / T
gnomAD v2: 11-64518886-A-T
gnomAD v3: 11-64751414-A-T
gnomAD v4: 11-64751414-A-T
MyVariant Identifiers: chr11:g.64518886A>T (hg19) chr11:g.64751414A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751414A>T , CM000673.2:g.64751414A>T GRCh38
NC_000011.9:g.64518886A>T , CM000673.1:g.64518886A>T GRCh37
NC_000011.8:g.64275462A>T NCBI36
NG_013018.1:g.14302T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1880T>A MANE Select ENSP00000164139.3:p.Ile627Asn
ENST00000164139.3:c.1880T>A ENSP00000164139.3:p.Ile627Asn
ENST00000377432.7:c.1616T>A ENSP00000366650.3:p.Ile539Asn
ENST00000462303.1:n.204T>A
NM_001164716.1:c.1616T>A NP_001158188.1:p.Ile539Asn
NM_005609.2:c.1880T>A NP_005600.1:p.Ile627Asn
NM_005609.3:c.1880T>A NP_005600.1:p.Ile627Asn
NM_005609.4:c.1880T>A MANE Select NP_005600.1:p.Ile627Asn
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