Canonical Allele Identifier: CA2624828796
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50905293-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905293C>A , CM000676.2:g.50905293C>A GRCh38
NC_000014.8:g.51372011C>A , CM000676.1:g.51372011C>A GRCh37
NC_000014.7:g.50441761C>A NCBI36
NG_012796.1:g.44238G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*99G>T MANE Select ENSP00000216392.7:n.*99G>T
ENST00000216392.7:c.*99G>T ENSP00000216392.7:n.*99G>T
ENST00000532462.5:c.2379+2978G>T ENSP00000431657.1:n.2379+2978G>T
ENST00000544180.6:c.*99G>T ENSP00000443787.1:n.*99G>T
NM_001163940.1:c.*99G>T NP_001157412.1:n.*99G>T
NM_002863.4:c.*99G>T NP_002854.3:n.*99G>T
NM_002863.5:c.*99G>T MANE Select NP_002854.3:n.*99G>T
NM_001163940.2:c.*99G>T NP_001157412.1:n.*99G>T
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