Canonical Allele Identifier: CA389699140
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50944178-A-G
MyVariant Identifiers: chr14:g.51410896A>G (hg19) chr14:g.50944178A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944178A>G , CM000676.2:g.50944178A>G GRCh38
NC_000014.8:g.51410896A>G , CM000676.1:g.51410896A>G GRCh37
NC_000014.7:g.50480646A>G NCBI36
NG_012796.1:g.5353T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.226T>C MANE Select ENSP00000216392.7:p.Tyr76His
ENST00000216392.7:c.226T>C ENSP00000216392.7:p.Tyr76His
ENST00000530336.2:n.293T>C
ENST00000532462.5:c.226T>C ENSP00000431657.1:p.Tyr76His
ENST00000544180.6:c.226T>C ENSP00000443787.1:p.Tyr76His
NM_001163940.1:c.226T>C NP_001157412.1:p.Tyr76His
NM_002863.4:c.226T>C NP_002854.3:p.Tyr76His
NM_002863.5:c.226T>C MANE Select NP_002854.3:p.Tyr76His
NM_001163940.2:c.226T>C NP_001157412.1:p.Tyr76His
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