Canonical Allele Identifier: CA474960862
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1162083
ClinVar RCV Id: RCV001506855
dbSNP Id: rs1341899522
gnomAD v2: 11-64525985-C-T
MyVariant Identifiers: chr11:g.64525985C>T (hg19) chr11:g.64758513C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758513C>T , CM000673.2:g.64758513C>T GRCh38
NC_000011.9:g.64525985C>T , CM000673.1:g.64525985C>T GRCh37
NC_000011.8:g.64282561C>T NCBI36
NG_013018.1:g.7203G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.348G>A MANE Select ENSP00000164139.3:p.Leu116=
ENST00000164139.3:c.348G>A ENSP00000164139.3:p.Leu116=
ENST00000377432.7:c.244-247G>A ENSP00000366650.3:n.244-247G>A
NM_001164716.1:c.244-247G>A NP_001158188.1:n.244-247G>A
NM_005609.2:c.348G>A NP_005600.1:p.Leu116=
NM_005609.3:c.348G>A NP_005600.1:p.Leu116=
NM_005609.4:c.348G>A MANE Select NP_005600.1:p.Leu116=
Search 100 bp 5'
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