Canonical Allele Identifier: CA7183869
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 258842
ClinVar RCV Id: RCV000252685
dbSNP Id: rs17123214
ExAC: 14:51404589 C / T
gnomAD v2: 14-51404589-C-T
gnomAD v3: 14-50937871-C-T
gnomAD v4: 14-50937871-C-T
MyVariant Identifiers: chr14:g.51404589C>T (hg19) chr14:g.50937871C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50937871C>T , CM000676.2:g.50937871C>T GRCh38
NC_000014.8:g.51404589C>T , CM000676.1:g.51404589C>T GRCh37
NC_000014.7:g.50474339C>T NCBI36
NG_012796.1:g.11660G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.244-34G>A MANE Select ENSP00000216392.7:n.244-34G>A
ENST00000216392.7:c.244-34G>A ENSP00000216392.7:n.244-34G>A
ENST00000530336.2:n.311-34G>A
ENST00000532462.5:c.244-34G>A ENSP00000431657.1:n.244-34G>A
ENST00000544180.6:c.244-2686G>A ENSP00000443787.1:n.244-2686G>A
NM_001163940.1:c.244-2686G>A NP_001157412.1:n.244-2686G>A
NM_002863.4:c.244-34G>A NP_002854.3:n.244-34G>A
NM_002863.5:c.244-34G>A MANE Select NP_002854.3:n.244-34G>A
NM_001163940.2:c.244-2686G>A NP_001157412.1:n.244-2686G>A
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