Canonical Allele Identifier: CA2624831163
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50914673-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50914673T>C , CM000676.2:g.50914673T>C GRCh38
NC_000014.8:g.51381391T>C , CM000676.1:g.51381391T>C GRCh37
NC_000014.7:g.50451141T>C NCBI36
NG_012796.1:g.34858A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.1518+28A>G MANE Select ENSP00000216392.7:n.1518+28A>G
ENST00000216392.7:c.1518+28A>G ENSP00000216392.7:n.1518+28A>G
ENST00000532462.5:c.1518+28A>G ENSP00000431657.1:n.1518+28A>G
ENST00000544180.6:c.1416+28A>G ENSP00000443787.1:n.1416+28A>G
NM_001163940.1:c.1416+28A>G NP_001157412.1:n.1416+28A>G
NM_002863.4:c.1518+28A>G NP_002854.3:n.1518+28A>G
NM_002863.5:c.1518+28A>G MANE Select NP_002854.3:n.1518+28A>G
NM_001163940.2:c.1416+28A>G NP_001157412.1:n.1416+28A>G
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