Canonical Allele Identifier: CA7183077
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs563405477
ExAC: 14:51372071 T / G
gnomAD v2: 14-51372071-T-G
gnomAD v3: 14-50905353-T-G
gnomAD v4: 14-50905353-T-G
MyVariant Identifiers: chr14:g.51372071T>G (hg19) chr14:g.50905353T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905353T>G , CM000676.2:g.50905353T>G GRCh38
NC_000014.8:g.51372071T>G , CM000676.1:g.51372071T>G GRCh37
NC_000014.7:g.50441821T>G NCBI36
NG_012796.1:g.44178A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*39A>C MANE Select ENSP00000216392.7:n.*39A>C
ENST00000216392.7:c.*39A>C ENSP00000216392.7:n.*39A>C
ENST00000532462.5:c.2379+2918A>C ENSP00000431657.1:n.2379+2918A>C
ENST00000544180.6:c.*39A>C ENSP00000443787.1:n.*39A>C
NM_001163940.1:c.*39A>C NP_001157412.1:n.*39A>C
NM_002863.4:c.*39A>C NP_002854.3:n.*39A>C
NM_002863.5:c.*39A>C MANE Select NP_002854.3:n.*39A>C
NM_001163940.2:c.*39A>C NP_001157412.1:n.*39A>C
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