Canonical Allele Identifier: CA963078927

Gene: PYGL

Linked Data

• dbSNP Id: rs1481449920
• gnomAD v3: 14-50944454-G-A
• gnomAD v4: 14-50944454-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944454G>A , CM000676.2:g.50944454G>A	GRCh38
NC_000014.8:g.51411172G>A , CM000676.1:g.51411172G>A	GRCh37
NC_000014.7:g.50480922G>A	NCBI36
NG_012796.1:g.5077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.-51C>T MANE Select	ENSP00000216392.7:n.-51C>T
ENST00000216392.7:c.-51C>T	ENSP00000216392.7:n.-51C>T
ENST00000530336.2:n.17C>T
ENST00000532462.5:c.-51C>T	ENSP00000431657.1:n.-51C>T
ENST00000544180.6:c.-51C>T	ENSP00000443787.1:n.-51C>T
NM_001163940.1:c.-51C>T	NP_001157412.1:n.-51C>T
NM_002863.4:c.-51C>T	NP_002854.3:n.-51C>T
NM_002863.5:c.-51C>T MANE Select	NP_002854.3:n.-51C>T
NM_001163940.2:c.-51C>T	NP_001157412.1:n.-51C>T