Canonical Allele Identifier: CA474959166
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2711413
ClinVar RCV Id: RCV003499025
MyVariant Identifiers: chr11:g.64520605G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753133G>C , CM000673.2:g.64753133G>C GRCh38
NC_000011.9:g.64520605G>C , CM000673.1:g.64520605G>C GRCh37
NC_000011.8:g.64277181G>C NCBI36
NG_013018.1:g.12583C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1458C>G MANE Select ENSP00000164139.3:p.Gly486=
ENST00000164139.3:c.1458C>G ENSP00000164139.3:p.Gly486=
ENST00000377432.7:c.1194C>G ENSP00000366650.3:p.Gly398=
NM_001164716.1:c.1194C>G NP_001158188.1:p.Gly398=
NM_005609.2:c.1458C>G NP_005600.1:p.Gly486=
NM_005609.3:c.1458C>G NP_005600.1:p.Gly486=
NM_005609.4:c.1458C>G MANE Select NP_005600.1:p.Gly486=
Search 100 bp 5'
Search 100 bp 3'