Canonical Allele Identifier: CA474959210
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64753548-G-T
MyVariant Identifiers: chr11:g.64521020G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753548G>T , CM000673.2:g.64753548G>T GRCh38
NC_000011.9:g.64521020G>T , CM000673.1:g.64521020G>T GRCh37
NC_000011.8:g.64277596G>T NCBI36
NG_013018.1:g.12168C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1374C>A MANE Select ENSP00000164139.3:p.Arg458=
ENST00000164139.3:c.1374C>A ENSP00000164139.3:p.Arg458=
ENST00000377432.7:c.1110C>A ENSP00000366650.3:p.Arg370=
NM_001164716.1:c.1110C>A NP_001158188.1:p.Arg370=
NM_005609.2:c.1374C>A NP_005600.1:p.Arg458=
NM_005609.3:c.1374C>A NP_005600.1:p.Arg458=
NM_005609.4:c.1374C>A MANE Select NP_005600.1:p.Arg458=
Search 100 bp 5'
Search 100 bp 3'