Canonical Allele Identifier: CA389678828
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs1476971587
gnomAD v2: 14-51372154-T-G
gnomAD v3: 14-50905436-T-G
gnomAD v4: 14-50905436-T-G
MyVariant Identifiers: chr14:g.51372154T>G (hg19) chr14:g.50905436T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905436T>G , CM000676.2:g.50905436T>G GRCh38
NC_000014.8:g.51372154T>G , CM000676.1:g.51372154T>G GRCh37
NC_000014.7:g.50441904T>G NCBI36
NG_012796.1:g.44095A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2500A>C MANE Select ENSP00000216392.7:p.Lys834Gln
ENST00000216392.7:c.2500A>C ENSP00000216392.7:p.Lys834Gln
ENST00000532462.5:c.2379+2835A>C ENSP00000431657.1:n.2379+2835A>C
ENST00000544180.6:c.2398A>C ENSP00000443787.1:p.Lys800Gln
NM_001163940.1:c.2398A>C NP_001157412.1:p.Lys800Gln
NM_002863.4:c.2500A>C NP_002854.3:p.Lys834Gln
NM_002863.5:c.2500A>C MANE Select NP_002854.3:p.Lys834Gln
NM_001163940.2:c.2398A>C NP_001157412.1:p.Lys800Gln
Search 100 bp 5'
Search 100 bp 3'