Canonical Allele Identifier: CA381167608
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2435311
ClinVar RCV Id: RCV003130365
MyVariant Identifiers: chr11:g.64517898G>T (hg19) chr11:g.64750426G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2127C>A MANE Select ENSP00000164139.3:p.Phe709Leu
ENST00000164139.3:c.2127C>A ENSP00000164139.3:p.Phe709Leu
ENST00000377432.7:c.1863C>A ENSP00000366650.3:p.Phe621Leu
NM_001164716.1:c.1863C>A NP_001158188.1:p.Phe621Leu
NM_005609.2:c.2127C>A NP_005600.1:p.Phe709Leu
NM_005609.3:c.2127C>A NP_005600.1:p.Phe709Leu
NM_005609.4:c.2127C>A MANE Select NP_005600.1:p.Phe709Leu
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