Canonical Allele Identifier: CA2136411154
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs2050321214
gnomAD v4: 14-50905390-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905390G>T , CM000676.2:g.50905390G>T GRCh38
NC_000014.8:g.51372108G>T , CM000676.1:g.51372108G>T GRCh37
NC_000014.7:g.50441858G>T NCBI36
NG_012796.1:g.44141C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*2C>A MANE Select ENSP00000216392.7:n.*2C>A
ENST00000216392.7:c.*2C>A ENSP00000216392.7:n.*2C>A
ENST00000532462.5:c.2379+2881C>A ENSP00000431657.1:n.2379+2881C>A
ENST00000544180.6:c.*2C>A ENSP00000443787.1:n.*2C>A
NM_001163940.1:c.*2C>A NP_001157412.1:n.*2C>A
NM_002863.4:c.*2C>A NP_002854.3:n.*2C>A
NM_002863.5:c.*2C>A MANE Select NP_002854.3:n.*2C>A
NM_001163940.2:c.*2C>A NP_001157412.1:n.*2C>A
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