Canonical Allele Identifier: CA389699134
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50944177-T-C
MyVariant Identifiers: chr14:g.51410895T>C (hg19) chr14:g.50944177T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944177T>C , CM000676.2:g.50944177T>C GRCh38
NC_000014.8:g.51410895T>C , CM000676.1:g.51410895T>C GRCh37
NC_000014.7:g.50480645T>C NCBI36
NG_012796.1:g.5354A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.227A>G MANE Select ENSP00000216392.7:p.Tyr76Cys
ENST00000216392.7:c.227A>G ENSP00000216392.7:p.Tyr76Cys
ENST00000530336.2:n.294A>G
ENST00000532462.5:c.227A>G ENSP00000431657.1:p.Tyr76Cys
ENST00000544180.6:c.227A>G ENSP00000443787.1:p.Tyr76Cys
NM_001163940.1:c.227A>G NP_001157412.1:p.Tyr76Cys
NM_002863.4:c.227A>G NP_002854.3:p.Tyr76Cys
NM_002863.5:c.227A>G MANE Select NP_002854.3:p.Tyr76Cys
NM_001163940.2:c.227A>G NP_001157412.1:p.Tyr76Cys
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