Canonical Allele Identifier: CA223897741
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2980403
ClinVar RCV Id: RCV003837577
dbSNP Id: rs1007363915
gnomAD v3: 11-64750426-G-A
gnomAD v4: 11-64750426-G-A
MyVariant Identifiers: chr11:g.64517898G>A (hg19) chr11:g.64750426G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750426G>A , CM000673.2:g.64750426G>A GRCh38
NC_000011.9:g.64517898G>A , CM000673.1:g.64517898G>A GRCh37
NC_000011.8:g.64274474G>A NCBI36
NG_007574.1:g.31C>T , LRG_100:g.31C>T
NG_013018.1:g.15290C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2127C>T MANE Select ENSP00000164139.3:p.Phe709=
ENST00000164139.3:c.2127C>T ENSP00000164139.3:p.Phe709=
ENST00000377432.7:c.1863C>T ENSP00000366650.3:p.Phe621=
NM_001164716.1:c.1863C>T NP_001158188.1:p.Phe621=
NM_005609.2:c.2127C>T NP_005600.1:p.Phe709=
NM_005609.3:c.2127C>T NP_005600.1:p.Phe709=
NM_005609.4:c.2127C>T MANE Select NP_005600.1:p.Phe709=
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