Canonical Allele Identifier: CA2624829999
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50944422-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944422C>T , CM000676.2:g.50944422C>T GRCh38
NC_000014.8:g.51411140C>T , CM000676.1:g.51411140C>T GRCh37
NC_000014.7:g.50480890C>T NCBI36
NG_012796.1:g.5109G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.-19G>A MANE Select ENSP00000216392.7:n.-19G>A
ENST00000216392.7:c.-19G>A ENSP00000216392.7:n.-19G>A
ENST00000530336.2:n.49G>A
ENST00000532462.5:c.-19G>A ENSP00000431657.1:n.-19G>A
ENST00000544180.6:c.-19G>A ENSP00000443787.1:n.-19G>A
NM_001163940.1:c.-19G>A NP_001157412.1:n.-19G>A
NM_002863.4:c.-19G>A NP_002854.3:n.-19G>A
NM_002863.5:c.-19G>A MANE Select NP_002854.3:n.-19G>A
NM_001163940.2:c.-19G>A NP_001157412.1:n.-19G>A
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