Canonical Allele Identifier: CA389682757
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50910098-A-C
MyVariant Identifiers: chr14:g.51376816A>C (hg19) chr14:g.50910098A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50910098A>C , CM000676.2:g.50910098A>C GRCh38
NC_000014.8:g.51376816A>C , CM000676.1:g.51376816A>C GRCh37
NC_000014.7:g.50446566A>C NCBI36
NG_012796.1:g.39433T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.1974T>G MANE Select ENSP00000216392.7:p.Ile658Met
ENST00000216392.7:c.1974T>G ENSP00000216392.7:p.Ile658Met
ENST00000532107.2:n.147T>G
ENST00000532462.5:c.1974T>G ENSP00000431657.1:p.Ile658Met
ENST00000544180.6:c.1872T>G ENSP00000443787.1:p.Ile624Met
NM_001163940.1:c.1872T>G NP_001157412.1:p.Ile624Met
NM_002863.4:c.1974T>G NP_002854.3:p.Ile658Met
NM_002863.5:c.1974T>G MANE Select NP_002854.3:p.Ile658Met
NM_001163940.2:c.1872T>G NP_001157412.1:p.Ile624Met
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