Canonical Allele Identifier: CA2136411062
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs2050319540
gnomAD v4: 14-50905319-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905319C>G , CM000676.2:g.50905319C>G GRCh38
NC_000014.8:g.51372037C>G , CM000676.1:g.51372037C>G GRCh37
NC_000014.7:g.50441787C>G NCBI36
NG_012796.1:g.44212G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*73G>C MANE Select ENSP00000216392.7:n.*73G>C
ENST00000216392.7:c.*73G>C ENSP00000216392.7:n.*73G>C
ENST00000532462.5:c.2379+2952G>C ENSP00000431657.1:n.2379+2952G>C
ENST00000544180.6:c.*73G>C ENSP00000443787.1:n.*73G>C
NM_001163940.1:c.*73G>C NP_001157412.1:n.*73G>C
NM_002863.4:c.*73G>C NP_002854.3:n.*73G>C
NM_002863.5:c.*73G>C MANE Select NP_002854.3:n.*73G>C
NM_001163940.2:c.*73G>C NP_001157412.1:n.*73G>C
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