Canonical Allele Identifier: CA381113014
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1434873172
gnomAD v2: 11-64527292-C-T
gnomAD v4: 11-64759820-C-T
MyVariant Identifiers: chr11:g.64527292C>T (hg19) chr11:g.64759820C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759820C>T , CM000673.2:g.64759820C>T GRCh38
NC_000011.9:g.64527292C>T , CM000673.1:g.64527292C>T GRCh37
NC_000011.8:g.64283868C>T NCBI36
NG_013018.1:g.5896G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.79G>A MANE Select ENSP00000164139.3:p.Glu27Lys
ENST00000164139.3:c.79G>A ENSP00000164139.3:p.Glu27Lys
ENST00000377432.7:c.79G>A ENSP00000366650.3:p.Glu27Lys
NM_001164716.1:c.79G>A NP_001158188.1:p.Glu27Lys
NM_005609.2:c.79G>A NP_005600.1:p.Glu27Lys
NM_005609.3:c.79G>A NP_005600.1:p.Glu27Lys
NM_005609.4:c.79G>A MANE Select NP_005600.1:p.Glu27Lys
Search 100 bp 5'
Search 100 bp 3'