Canonical Allele Identifier: CA200427
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 193236
ClinVar RCV Id: RCV000173284 RCV000329268 RCV000675374
dbSNP Id: rs77316189
ExAC: 14:51410969 G / A
gnomAD v2: 14-51410969-G-A
gnomAD v3: 14-50944251-G-A
gnomAD v4: 14-50944251-G-A
MyVariant Identifiers: chr14:g.51410969G>A (hg19) chr14:g.50944251G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944251G>A , CM000676.2:g.50944251G>A GRCh38
NC_000014.8:g.51410969G>A , CM000676.1:g.51410969G>A GRCh37
NC_000014.7:g.50480719G>A NCBI36
NG_012796.1:g.5280C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.153C>T MANE Select ENSP00000216392.7:p.Asp51=
ENST00000216392.7:c.153C>T ENSP00000216392.7:p.Asp51=
ENST00000530336.2:n.220C>T
ENST00000532462.5:c.153C>T ENSP00000431657.1:p.Asp51=
ENST00000544180.6:c.153C>T ENSP00000443787.1:p.Asp51=
NM_001163940.1:c.153C>T NP_001157412.1:p.Asp51=
NM_002863.4:c.153C>T NP_002854.3:p.Asp51=
NM_002863.5:c.153C>T MANE Select NP_002854.3:p.Asp51=
NM_001163940.2:c.153C>T NP_001157412.1:p.Asp51=
Search 100 bp 5'
Search 100 bp 3'