Canonical Allele Identifier: CA474958680
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2714260
ClinVar RCV Id: RCV003499103
MyVariant Identifiers: chr11:g.64517961C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750489C>T , CM000673.2:g.64750489C>T GRCh38
NC_000011.9:g.64517961C>T , CM000673.1:g.64517961C>T GRCh37
NC_000011.8:g.64274537C>T NCBI36
NG_013018.1:g.15227G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2064G>A MANE Select ENSP00000164139.3:p.Leu688=
ENST00000164139.3:c.2064G>A ENSP00000164139.3:p.Leu688=
ENST00000377432.7:c.1800G>A ENSP00000366650.3:p.Leu600=
NM_001164716.1:c.1800G>A NP_001158188.1:p.Leu600=
NM_005609.2:c.2064G>A NP_005600.1:p.Leu688=
NM_005609.3:c.2064G>A NP_005600.1:p.Leu688=
NM_005609.4:c.2064G>A MANE Select NP_005600.1:p.Leu688=
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