Canonical Allele Identifier: CA599653398
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1164575441
gnomAD v2: 11-64520450-G-A
gnomAD v3: 11-64752978-G-A
gnomAD v4: 11-64752978-G-A
MyVariant Identifiers: chr11:g.64520450G>A (hg19) chr11:g.64752978G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64752978G>A , CM000673.2:g.64752978G>A GRCh38
NC_000011.9:g.64520450G>A , CM000673.1:g.64520450G>A GRCh37
NC_000011.8:g.64277026G>A NCBI36
NG_013018.1:g.12738C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1518+95C>T MANE Select ENSP00000164139.3:n.1518+95C>T
ENST00000164139.3:c.1518+95C>T ENSP00000164139.3:n.1518+95C>T
ENST00000377432.7:c.1254+95C>T ENSP00000366650.3:n.1254+95C>T
NM_001164716.1:c.1254+95C>T NP_001158188.1:n.1254+95C>T
NM_005609.2:c.1518+95C>T NP_005600.1:n.1518+95C>T
NM_005609.3:c.1518+95C>T NP_005600.1:n.1518+95C>T
NM_005609.4:c.1518+95C>T MANE Select NP_005600.1:n.1518+95C>T
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