Canonical Allele Identifier: CA7183110
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 2199430
ClinVar RCV Id: RCV002624895
dbSNP Id: rs539618096
ExAC: 14:51372286 A / G
gnomAD v2: 14-51372286-A-G
gnomAD v3: 14-50905568-A-G
gnomAD v4: 14-50905568-A-G
MyVariant Identifiers: chr14:g.51372286A>G (hg19) chr14:g.50905568A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905568A>G , CM000676.2:g.50905568A>G GRCh38
NC_000014.8:g.51372286A>G , CM000676.1:g.51372286A>G GRCh37
NC_000014.7:g.50442036A>G NCBI36
NG_012796.1:g.43963T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2380-12T>C MANE Select ENSP00000216392.7:n.2380-12T>C
ENST00000216392.7:c.2380-12T>C ENSP00000216392.7:n.2380-12T>C
ENST00000532462.5:c.2379+2703T>C ENSP00000431657.1:n.2379+2703T>C
ENST00000544180.6:c.2278-12T>C ENSP00000443787.1:n.2278-12T>C
NM_001163940.1:c.2278-12T>C NP_001157412.1:n.2278-12T>C
NM_002863.4:c.2380-12T>C NP_002854.3:n.2380-12T>C
NM_002863.5:c.2380-12T>C MANE Select NP_002854.3:n.2380-12T>C
NM_001163940.2:c.2278-12T>C NP_001157412.1:n.2278-12T>C
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