Canonical Allele Identifier: CA389691498
Gene: PYGL HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.51387675G>C (hg19) chr14:g.50920957G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50920957G>C , CM000676.2:g.50920957G>C GRCh38
NC_000014.8:g.51387675G>C , CM000676.1:g.51387675G>C GRCh37
NC_000014.7:g.50457425G>C NCBI36
NG_012796.1:g.28574C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.771C>G MANE Select ENSP00000216392.7:p.Asp257Glu
ENST00000216392.7:c.771C>G ENSP00000216392.7:p.Asp257Glu
ENST00000532462.5:c.771C>G ENSP00000431657.1:p.Asp257Glu
ENST00000544180.6:c.669C>G ENSP00000443787.1:p.Asp223Glu
ENST00000553872.1:n.572C>G
NM_001163940.1:c.669C>G NP_001157412.1:p.Asp223Glu
NM_002863.4:c.771C>G NP_002854.3:p.Asp257Glu
NM_002863.5:c.771C>G MANE Select NP_002854.3:p.Asp257Glu
NM_001163940.2:c.669C>G NP_001157412.1:p.Asp223Glu
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