Canonical Allele Identifier: CA7183085
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 1038832
ClinVar RCV Id: RCV001342194 RCV002261349 RCV002546950
dbSNP Id: rs147863207
ExAC: 14:51372114 T / A
gnomAD v2: 14-51372114-T-A
gnomAD v3: 14-50905396-T-A
gnomAD v4: 14-50905396-T-A
MyVariant Identifiers: chr14:g.51372114T>A (hg19) chr14:g.50905396T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905396T>A , CM000676.2:g.50905396T>A GRCh38
NC_000014.8:g.51372114T>A , CM000676.1:g.51372114T>A GRCh37
NC_000014.7:g.50441864T>A NCBI36
NG_012796.1:g.44135A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2540A>T MANE Select ENSP00000216392.7:p.Asn847Ile
ENST00000216392.7:c.2540A>T ENSP00000216392.7:p.Asn847Ile
ENST00000532462.5:c.2379+2875A>T ENSP00000431657.1:n.2379+2875A>T
ENST00000544180.6:c.2438A>T ENSP00000443787.1:p.Asn813Ile
NM_001163940.1:c.2438A>T NP_001157412.1:p.Asn813Ile
NM_002863.4:c.2540A>T NP_002854.3:p.Asn847Ile
NM_002863.5:c.2540A>T MANE Select NP_002854.3:p.Asn847Ile
NM_001163940.2:c.2438A>T NP_001157412.1:p.Asn813Ile
Search 100 bp 5'
Search 100 bp 3'