Canonical Allele Identifier: CA938864883
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs2058365984
gnomAD v3: 11-64752830-T-A
gnomAD v4: 11-64752830-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64752830T>A , CM000673.2:g.64752830T>A GRCh38
NC_000011.9:g.64520302T>A , CM000673.1:g.64520302T>A GRCh37
NC_000011.8:g.64276878T>A NCBI36
NG_013018.1:g.12886A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1518+243A>T MANE Select ENSP00000164139.3:n.1518+243A>T
ENST00000164139.3:c.1518+243A>T ENSP00000164139.3:n.1518+243A>T
ENST00000377432.7:c.1254+243A>T ENSP00000366650.3:n.1254+243A>T
NM_001164716.1:c.1254+243A>T NP_001158188.1:n.1254+243A>T
NM_005609.2:c.1518+243A>T NP_005600.1:n.1518+243A>T
NM_005609.3:c.1518+243A>T NP_005600.1:n.1518+243A>T
NM_005609.4:c.1518+243A>T MANE Select NP_005600.1:n.1518+243A>T
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