Canonical Allele Identifier: CA2624827890
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50920930-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50920930G>C , CM000676.2:g.50920930G>C GRCh38
NC_000014.8:g.51387648G>C , CM000676.1:g.51387648G>C GRCh37
NC_000014.7:g.50457398G>C NCBI36
NG_012796.1:g.28601C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.772+26C>G MANE Select ENSP00000216392.7:n.772+26C>G
ENST00000216392.7:c.772+26C>G ENSP00000216392.7:n.772+26C>G
ENST00000532462.5:c.772+26C>G ENSP00000431657.1:n.772+26C>G
ENST00000544180.6:c.670+26C>G ENSP00000443787.1:n.670+26C>G
ENST00000553872.1:n.573+26C>G
NM_001163940.1:c.670+26C>G NP_001157412.1:n.670+26C>G
NM_002863.4:c.772+26C>G NP_002854.3:n.772+26C>G
NM_002863.5:c.772+26C>G MANE Select NP_002854.3:n.772+26C>G
NM_001163940.2:c.670+26C>G NP_001157412.1:n.670+26C>G
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