Canonical Allele Identifier: CA260846621

Gene: PYGL

Linked Data

• dbSNP Id: rs957651578
• gnomAD v4: 14-50944427-C-A
• MyVariant Identifiers: chr14:g.51411145C>A (hg19) ; chr14:g.50944427C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944427C>A , CM000676.2:g.50944427C>A	GRCh38
NC_000014.8:g.51411145C>A , CM000676.1:g.51411145C>A	GRCh37
NC_000014.7:g.50480895C>A	NCBI36
NG_012796.1:g.5104G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.-24G>T MANE Select	ENSP00000216392.7:n.-24G>T
ENST00000216392.7:c.-24G>T	ENSP00000216392.7:n.-24G>T
ENST00000530336.2:n.44G>T
ENST00000532462.5:c.-24G>T	ENSP00000431657.1:n.-24G>T
ENST00000544180.6:c.-24G>T	ENSP00000443787.1:n.-24G>T
NM_001163940.1:c.-24G>T	NP_001157412.1:n.-24G>T
NM_002863.4:c.-24G>T	NP_002854.3:n.-24G>T
NM_002863.5:c.-24G>T MANE Select	NP_002854.3:n.-24G>T
NM_001163940.2:c.-24G>T	NP_001157412.1:n.-24G>T