Canonical Allele Identifier: CA2624828813
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50905324-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905324A>G , CM000676.2:g.50905324A>G GRCh38
NC_000014.8:g.51372042A>G , CM000676.1:g.51372042A>G GRCh37
NC_000014.7:g.50441792A>G NCBI36
NG_012796.1:g.44207T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*68T>C MANE Select ENSP00000216392.7:n.*68T>C
ENST00000216392.7:c.*68T>C ENSP00000216392.7:n.*68T>C
ENST00000532462.5:c.2379+2947T>C ENSP00000431657.1:n.2379+2947T>C
ENST00000544180.6:c.*68T>C ENSP00000443787.1:n.*68T>C
NM_001163940.1:c.*68T>C NP_001157412.1:n.*68T>C
NM_002863.4:c.*68T>C NP_002854.3:n.*68T>C
NM_002863.5:c.*68T>C MANE Select NP_002854.3:n.*68T>C
NM_001163940.2:c.*68T>C NP_001157412.1:n.*68T>C
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