Canonical Allele Identifier: CA260818701
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs1031818510
gnomAD v4: 14-50905272-C-T
MyVariant Identifiers: chr14:g.51371990C>T (hg19) chr14:g.50905272C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905272C>T , CM000676.2:g.50905272C>T GRCh38
NC_000014.8:g.51371990C>T , CM000676.1:g.51371990C>T GRCh37
NC_000014.7:g.50441740C>T NCBI36
NG_012796.1:g.44259G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*120G>A MANE Select ENSP00000216392.7:n.*120G>A
ENST00000216392.7:c.*120G>A ENSP00000216392.7:n.*120G>A
ENST00000532462.5:c.2379+2999G>A ENSP00000431657.1:n.2379+2999G>A
ENST00000544180.6:c.*120G>A ENSP00000443787.1:n.*120G>A
NM_001163940.1:c.*120G>A NP_001157412.1:n.*120G>A
NM_002863.4:c.*120G>A NP_002854.3:n.*120G>A
NM_002863.5:c.*120G>A MANE Select NP_002854.3:n.*120G>A
NM_001163940.2:c.*120G>A NP_001157412.1:n.*120G>A
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