Canonical Allele Identifier: CA6079594
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2998697
ClinVar RCV Id: RCV003859344
dbSNP Id: rs746364616
ExAC: 11:64514764 A / G
gnomAD v2: 11-64514764-A-G
gnomAD v4: 11-64747292-A-G
MyVariant Identifiers: chr11:g.64514764A>G (hg19) chr11:g.64747292A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747292A>G , CM000673.2:g.64747292A>G GRCh38
NC_000011.9:g.64514764A>G , CM000673.1:g.64514764A>G GRCh37
NC_000011.8:g.64271340A>G NCBI36
NG_007574.1:g.3165T>C , LRG_100:g.3165T>C
NG_013018.1:g.18424T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2244T>C MANE Select ENSP00000164139.3:p.Ser748=
ENST00000164139.3:c.2244T>C ENSP00000164139.3:p.Ser748=
ENST00000377432.7:c.1980T>C ENSP00000366650.3:p.Ser660=
ENST00000483742.1:n.1597T>C
NM_001164716.1:c.1980T>C NP_001158188.1:p.Ser660=
NM_005609.2:c.2244T>C NP_005600.1:p.Ser748=
NM_005609.3:c.2244T>C NP_005600.1:p.Ser748=
NM_005609.4:c.2244T>C MANE Select NP_005600.1:p.Ser748=
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