Canonical Allele Identifier: CA486653721
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs1263318891
gnomAD v2: 14-51410945-C-T
gnomAD v3: 14-50944227-C-T
gnomAD v4: 14-50944227-C-T
MyVariant Identifiers: chr14:g.51410945C>T (hg19) chr14:g.50944227C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944227C>T , CM000676.2:g.50944227C>T GRCh38
NC_000014.8:g.51410945C>T , CM000676.1:g.51410945C>T GRCh37
NC_000014.7:g.50480695C>T NCBI36
NG_012796.1:g.5304G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.177G>A MANE Select ENSP00000216392.7:p.Thr59=
ENST00000216392.7:c.177G>A ENSP00000216392.7:p.Thr59=
ENST00000530336.2:n.244G>A
ENST00000532462.5:c.177G>A ENSP00000431657.1:p.Thr59=
ENST00000544180.6:c.177G>A ENSP00000443787.1:p.Thr59=
NM_001163940.1:c.177G>A NP_001157412.1:p.Thr59=
NM_002863.4:c.177G>A NP_002854.3:p.Thr59=
NM_002863.5:c.177G>A MANE Select NP_002854.3:p.Thr59=
NM_001163940.2:c.177G>A NP_001157412.1:p.Thr59=
Search 100 bp 5'
Search 100 bp 3'