Canonical Allele Identifier: CA381110931
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64758610-G-C
MyVariant Identifiers: chr11:g.64526082G>C (hg19) chr11:g.64758610G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758610G>C , CM000673.2:g.64758610G>C GRCh38
NC_000011.9:g.64526082G>C , CM000673.1:g.64526082G>C GRCh37
NC_000011.8:g.64282658G>C NCBI36
NG_013018.1:g.7106C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.338C>G MANE Select ENSP00000164139.3:p.Thr113Ser
ENST00000164139.3:c.338C>G ENSP00000164139.3:p.Thr113Ser
ENST00000377432.7:c.244-344C>G ENSP00000366650.3:n.244-344C>G
NM_001164716.1:c.244-344C>G NP_001158188.1:n.244-344C>G
NM_005609.2:c.338C>G NP_005600.1:p.Thr113Ser
NM_005609.3:c.338C>G NP_005600.1:p.Thr113Ser
NM_005609.4:c.338C>G MANE Select NP_005600.1:p.Thr113Ser
Search 100 bp 5'
Search 100 bp 3'