Canonical Allele Identifier: CA474958909
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1141870
ClinVar RCV Id: RCV001479432
dbSNP Id: rs144764922
gnomAD v2: 11-64518897-G-T
gnomAD v4: 11-64751425-G-T
MyVariant Identifiers: chr11:g.64518897G>T (hg19) chr11:g.64751425G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751425G>T , CM000673.2:g.64751425G>T GRCh38
NC_000011.9:g.64518897G>T , CM000673.1:g.64518897G>T GRCh37
NC_000011.8:g.64275473G>T NCBI36
NG_013018.1:g.14291C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1869C>A MANE Select ENSP00000164139.3:p.Leu623=
ENST00000164139.3:c.1869C>A ENSP00000164139.3:p.Leu623=
ENST00000377432.7:c.1605C>A ENSP00000366650.3:p.Leu535=
ENST00000462303.1:n.193C>A
NM_001164716.1:c.1605C>A NP_001158188.1:p.Leu535=
NM_005609.2:c.1869C>A NP_005600.1:p.Leu623=
NM_005609.3:c.1869C>A NP_005600.1:p.Leu623=
NM_005609.4:c.1869C>A MANE Select NP_005600.1:p.Leu623=
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