Canonical Allele Identifier: CA7183926
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 746995
ClinVar RCV Id: RCV000923660 RCV003624435 RCV003970513
dbSNP Id: rs140912135
ExAC: 14:51411092 C / T
gnomAD v2: 14-51411092-C-T
gnomAD v3: 14-50944374-C-T
gnomAD v4: 14-50944374-C-T
MyVariant Identifiers: chr14:g.51411092C>T (hg19) chr14:g.50944374C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944374C>T , CM000676.2:g.50944374C>T GRCh38
NC_000014.8:g.51411092C>T , CM000676.1:g.51411092C>T GRCh37
NC_000014.7:g.50480842C>T NCBI36
NG_012796.1:g.5157G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.30G>A MANE Select ENSP00000216392.7:p.Lys10=
ENST00000216392.7:c.30G>A ENSP00000216392.7:p.Lys10=
ENST00000530336.2:n.97G>A
ENST00000532462.5:c.30G>A ENSP00000431657.1:p.Lys10=
ENST00000544180.6:c.30G>A ENSP00000443787.1:p.Lys10=
NM_001163940.1:c.30G>A NP_001157412.1:p.Lys10=
NM_002863.4:c.30G>A NP_002854.3:p.Lys10=
NM_002863.5:c.30G>A MANE Select NP_002854.3:p.Lys10=
NM_001163940.2:c.30G>A NP_001157412.1:p.Lys10=
Search 100 bp 5'
Search 100 bp 3'