Canonical Allele Identifier: CA7183899
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 711568
ClinVar RCV Id: RCV000883353 RCV001113925
dbSNP Id: rs139338050
ExAC: 14:51410975 G / A
gnomAD v2: 14-51410975-G-A
gnomAD v3: 14-50944257-G-A
gnomAD v4: 14-50944257-G-A
MyVariant Identifiers: chr14:g.51410975G>A (hg19) chr14:g.50944257G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944257G>A , CM000676.2:g.50944257G>A GRCh38
NC_000014.8:g.51410975G>A , CM000676.1:g.51410975G>A GRCh37
NC_000014.7:g.50480725G>A NCBI36
NG_012796.1:g.5274C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.147C>T MANE Select ENSP00000216392.7:p.Thr49=
ENST00000216392.7:c.147C>T ENSP00000216392.7:p.Thr49=
ENST00000530336.2:n.214C>T
ENST00000532462.5:c.147C>T ENSP00000431657.1:p.Thr49=
ENST00000544180.6:c.147C>T ENSP00000443787.1:p.Thr49=
NM_001163940.1:c.147C>T NP_001157412.1:p.Thr49=
NM_002863.4:c.147C>T NP_002854.3:p.Thr49=
NM_002863.5:c.147C>T MANE Select NP_002854.3:p.Thr49=
NM_001163940.2:c.147C>T NP_001157412.1:p.Thr49=
Search 100 bp 5'
Search 100 bp 3'