Canonical Allele Identifier: CA6079595
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2119036
ClinVar RCV Id: RCV003032892
dbSNP Id: rs770352968
ExAC: 11:64514770 C / T
gnomAD v2: 11-64514770-C-T
gnomAD v4: 11-64747298-C-T
MyVariant Identifiers: chr11:g.64514770C>T (hg19) chr11:g.64747298C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747298C>T , CM000673.2:g.64747298C>T GRCh38
NC_000011.9:g.64514770C>T , CM000673.1:g.64514770C>T GRCh37
NC_000011.8:g.64271346C>T NCBI36
NG_007574.1:g.3159G>A , LRG_100:g.3159G>A
NG_013018.1:g.18418G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2238G>A MANE Select ENSP00000164139.3:p.Leu746=
ENST00000164139.3:c.2238G>A ENSP00000164139.3:p.Leu746=
ENST00000377432.7:c.1974G>A ENSP00000366650.3:p.Leu658=
ENST00000483742.1:n.1591G>A
NM_001164716.1:c.1974G>A NP_001158188.1:p.Leu658=
NM_005609.2:c.2238G>A NP_005600.1:p.Leu746=
NM_005609.3:c.2238G>A NP_005600.1:p.Leu746=
NM_005609.4:c.2238G>A MANE Select NP_005600.1:p.Leu746=
Search 100 bp 5'
Search 100 bp 3'