Canonical Allele Identifier: CA963068384
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs2050318947
gnomAD v3: 14-50905284-G-C
gnomAD v4: 14-50905284-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905284G>C , CM000676.2:g.50905284G>C GRCh38
NC_000014.8:g.51372002G>C , CM000676.1:g.51372002G>C GRCh37
NC_000014.7:g.50441752G>C NCBI36
NG_012796.1:g.44247C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*108C>G MANE Select ENSP00000216392.7:n.*108C>G
ENST00000216392.7:c.*108C>G ENSP00000216392.7:n.*108C>G
ENST00000532462.5:c.2379+2987C>G ENSP00000431657.1:n.2379+2987C>G
ENST00000544180.6:c.*108C>G ENSP00000443787.1:n.*108C>G
NM_001163940.1:c.*108C>G NP_001157412.1:n.*108C>G
NM_002863.4:c.*108C>G NP_002854.3:n.*108C>G
NM_002863.5:c.*108C>G MANE Select NP_002854.3:n.*108C>G
NM_001163940.2:c.*108C>G NP_001157412.1:n.*108C>G
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