Canonical Allele Identifier: CA6079672
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 760684
ClinVar RCV Id: RCV000938663
dbSNP Id: rs779048512
ExAC: 11:64518840 A / G
gnomAD v2: 11-64518840-A-G
gnomAD v3: 11-64751368-A-G
gnomAD v4: 11-64751368-A-G
MyVariant Identifiers: chr11:g.64518840A>G (hg19) chr11:g.64751368A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751368A>G , CM000673.2:g.64751368A>G GRCh38
NC_000011.9:g.64518840A>G , CM000673.1:g.64518840A>G GRCh37
NC_000011.8:g.64275416A>G NCBI36
NG_013018.1:g.14348T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1926T>C MANE Select ENSP00000164139.3:p.Arg642=
ENST00000164139.3:c.1926T>C ENSP00000164139.3:p.Arg642=
ENST00000377432.7:c.1662T>C ENSP00000366650.3:p.Arg554=
ENST00000462303.1:n.250T>C
NM_001164716.1:c.1662T>C NP_001158188.1:p.Arg554=
NM_005609.2:c.1926T>C NP_005600.1:p.Arg642=
NM_005609.3:c.1926T>C NP_005600.1:p.Arg642=
NM_005609.4:c.1926T>C MANE Select NP_005600.1:p.Arg642=
Search 100 bp 5'
Search 100 bp 3'