Canonical Allele Identifier: CA381167627
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1917909
ClinVar RCV Id: RCV002601694
gnomAD v4: 11-64750430-T-A
MyVariant Identifiers: chr11:g.64517902T>A (hg19) chr11:g.64750430T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750430T>A , CM000673.2:g.64750430T>A GRCh38
NC_000011.9:g.64517902T>A , CM000673.1:g.64517902T>A GRCh37
NC_000011.8:g.64274478T>A NCBI36
NG_007574.1:g.27A>T , LRG_100:g.27A>T
NG_013018.1:g.15286A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2123A>T MANE Select ENSP00000164139.3:p.Asn708Ile
ENST00000164139.3:c.2123A>T ENSP00000164139.3:p.Asn708Ile
ENST00000377432.7:c.1859A>T ENSP00000366650.3:p.Asn620Ile
NM_001164716.1:c.1859A>T NP_001158188.1:p.Asn620Ile
NM_005609.2:c.2123A>T NP_005600.1:p.Asn708Ile
NM_005609.3:c.2123A>T NP_005600.1:p.Asn708Ile
NM_005609.4:c.2123A>T MANE Select NP_005600.1:p.Asn708Ile
Search 100 bp 5'
Search 100 bp 3'