Canonical Allele Identifier: CA6079878
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs753363250
ExAC: 11:64520945 G / A
gnomAD v2: 11-64520945-G-A
gnomAD v4: 11-64753473-G-A
MyVariant Identifiers: chr11:g.64520945G>A (hg19) chr11:g.64753473G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753473G>A , CM000673.2:g.64753473G>A GRCh38
NC_000011.9:g.64520945G>A , CM000673.1:g.64520945G>A GRCh37
NC_000011.8:g.64277521G>A NCBI36
NG_013018.1:g.12243C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1403+46C>T MANE Select ENSP00000164139.3:n.1403+46C>T
ENST00000164139.3:c.1403+46C>T ENSP00000164139.3:n.1403+46C>T
ENST00000377432.7:c.1139+46C>T ENSP00000366650.3:n.1139+46C>T
NM_001164716.1:c.1139+46C>T NP_001158188.1:n.1139+46C>T
NM_005609.2:c.1403+46C>T NP_005600.1:n.1403+46C>T
NM_005609.3:c.1403+46C>T NP_005600.1:n.1403+46C>T
NM_005609.4:c.1403+46C>T MANE Select NP_005600.1:n.1403+46C>T
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