Canonical Allele Identifier: CA2624829249

Gene: PYGL

Linked Data

• gnomAD v4: 14-50944135-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944135C>A , CM000676.2:g.50944135C>A	GRCh38
NC_000014.8:g.51410853C>A , CM000676.1:g.51410853C>A	GRCh37
NC_000014.7:g.50480603C>A	NCBI36
NG_012796.1:g.5396G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.243+26G>T MANE Select	ENSP00000216392.7:n.243+26G>T
ENST00000216392.7:c.243+26G>T	ENSP00000216392.7:n.243+26G>T
ENST00000530336.2:n.310+26G>T
ENST00000532462.5:c.243+26G>T	ENSP00000431657.1:n.243+26G>T
ENST00000544180.6:c.243+26G>T	ENSP00000443787.1:n.243+26G>T
NM_001163940.1:c.243+26G>T	NP_001157412.1:n.243+26G>T
NM_002863.4:c.243+26G>T	NP_002854.3:n.243+26G>T
NM_002863.5:c.243+26G>T MANE Select	NP_002854.3:n.243+26G>T
NM_001163940.2:c.243+26G>T	NP_001157412.1:n.243+26G>T