Canonical Allele Identifier: CA7183252
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs531430985
ExAC: 14:51376784 G / A
gnomAD v2: 14-51376784-G-A
gnomAD v3: 14-50910066-G-A
gnomAD v4: 14-50910066-G-A
MyVariant Identifiers: chr14:g.51376784G>A (hg19) chr14:g.50910066G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50910066G>A , CM000676.2:g.50910066G>A GRCh38
NC_000014.8:g.51376784G>A , CM000676.1:g.51376784G>A GRCh37
NC_000014.7:g.50446534G>A NCBI36
NG_012796.1:g.39465C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2006C>T MANE Select ENSP00000216392.7:p.Thr669Ile
ENST00000216392.7:c.2006C>T ENSP00000216392.7:p.Thr669Ile
ENST00000532107.2:n.179C>T
ENST00000532462.5:c.2006C>T ENSP00000431657.1:p.Thr669Ile
ENST00000544180.6:c.1904C>T ENSP00000443787.1:p.Thr635Ile
NM_001163940.1:c.1904C>T NP_001157412.1:p.Thr635Ile
NM_002863.4:c.2006C>T NP_002854.3:p.Thr669Ile
NM_002863.5:c.2006C>T MANE Select NP_002854.3:p.Thr669Ile
NM_001163940.2:c.1904C>T NP_001157412.1:p.Thr635Ile
Search 100 bp 5'
Search 100 bp 3'