Canonical Allele Identifier: CA2739270516
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2918252
ClinVar RCV Id: RCV003604548
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758591C>T , CM000673.2:g.64758591C>T GRCh38
NC_000011.9:g.64526063C>T , CM000673.1:g.64526063C>T GRCh37
NC_000011.8:g.64282639C>T NCBI36
NG_013018.1:g.7125G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.345+12G>A MANE Select ENSP00000164139.3:n.345+12G>A
ENST00000164139.3:c.345+12G>A ENSP00000164139.3:n.345+12G>A
ENST00000377432.7:c.244-325G>A ENSP00000366650.3:n.244-325G>A
NM_001164716.1:c.244-325G>A NP_001158188.1:n.244-325G>A
NM_005609.2:c.345+12G>A NP_005600.1:n.345+12G>A
NM_005609.3:c.345+12G>A NP_005600.1:n.345+12G>A
NM_005609.4:c.345+12G>A MANE Select NP_005600.1:n.345+12G>A
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