Canonical Allele Identifier: CA486372253
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs1167613668
gnomAD v2: 14-51372164-A-T
gnomAD v3: 14-50905446-A-T
gnomAD v4: 14-50905446-A-T
MyVariant Identifiers: chr14:g.51372164A>T (hg19) chr14:g.50905446A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905446A>T , CM000676.2:g.50905446A>T GRCh38
NC_000014.8:g.51372164A>T , CM000676.1:g.51372164A>T GRCh37
NC_000014.7:g.50441914A>T NCBI36
NG_012796.1:g.44085T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2490T>A MANE Select ENSP00000216392.7:p.Pro830=
ENST00000216392.7:c.2490T>A ENSP00000216392.7:p.Pro830=
ENST00000532462.5:c.2379+2825T>A ENSP00000431657.1:n.2379+2825T>A
ENST00000544180.6:c.2388T>A ENSP00000443787.1:p.Pro796=
NM_001163940.1:c.2388T>A NP_001157412.1:p.Pro796=
NM_002863.4:c.2490T>A NP_002854.3:p.Pro830=
NM_002863.5:c.2490T>A MANE Select NP_002854.3:p.Pro830=
NM_001163940.2:c.2388T>A NP_001157412.1:p.Pro796=
Search 100 bp 5'
Search 100 bp 3'