Canonical Allele Identifier: CA6080259
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 515612
ClinVar RCV Id: RCV000603242 RCV003497868
dbSNP Id: rs201194596
ExAC: 11:64525893 G / A
gnomAD v2: 11-64525893-G-A
gnomAD v3: 11-64758421-G-A
gnomAD v4: 11-64758421-G-A
MyVariant Identifiers: chr11:g.64525893G>A (hg19) chr11:g.64758421G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758421G>A , CM000673.2:g.64758421G>A GRCh38
NC_000011.9:g.64525893G>A , CM000673.1:g.64525893G>A GRCh37
NC_000011.8:g.64282469G>A NCBI36
NG_013018.1:g.7295C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.424+16C>T MANE Select ENSP00000164139.3:n.424+16C>T
ENST00000164139.3:c.424+16C>T ENSP00000164139.3:n.424+16C>T
ENST00000377432.7:c.244-155C>T ENSP00000366650.3:n.244-155C>T
NM_001164716.1:c.244-155C>T NP_001158188.1:n.244-155C>T
NM_005609.2:c.424+16C>T NP_005600.1:n.424+16C>T
NM_005609.3:c.424+16C>T NP_005600.1:n.424+16C>T
NM_005609.4:c.424+16C>T MANE Select NP_005600.1:n.424+16C>T
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