Canonical Allele Identifier: CA6079887
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 761821
ClinVar RCV Id: RCV000939898
dbSNP Id: rs555057489
ExAC: 11:64520999 C / T
gnomAD v2: 11-64520999-C-T
gnomAD v3: 11-64753527-C-T
gnomAD v4: 11-64753527-C-T
MyVariant Identifiers: chr11:g.64520999C>T (hg19) chr11:g.64753527C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753527C>T , CM000673.2:g.64753527C>T GRCh38
NC_000011.9:g.64520999C>T , CM000673.1:g.64520999C>T GRCh37
NC_000011.8:g.64277575C>T NCBI36
NG_013018.1:g.12189G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1395G>A MANE Select ENSP00000164139.3:p.Lys465=
ENST00000164139.3:c.1395G>A ENSP00000164139.3:p.Lys465=
ENST00000377432.7:c.1131G>A ENSP00000366650.3:p.Lys377=
NM_001164716.1:c.1131G>A NP_001158188.1:p.Lys377=
NM_005609.2:c.1395G>A NP_005600.1:p.Lys465=
NM_005609.3:c.1395G>A NP_005600.1:p.Lys465=
NM_005609.4:c.1395G>A MANE Select NP_005600.1:p.Lys465=
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