Canonical Allele Identifier: CA2575525103

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905327A>T , CM000676.2:g.50905327A>T	GRCh38
NC_000014.8:g.51372045A>T , CM000676.1:g.51372045A>T	GRCh37
NC_000014.7:g.50441795A>T	NCBI36
NG_012796.1:g.44204T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.*65T>A MANE Select	ENSP00000216392.7:n.*65T>A
ENST00000216392.7:c.*65T>A	ENSP00000216392.7:n.*65T>A
ENST00000532462.5:c.2379+2944T>A	ENSP00000431657.1:n.2379+2944T>A
ENST00000544180.6:c.*65T>A	ENSP00000443787.1:n.*65T>A
NM_001163940.1:c.*65T>A	NP_001157412.1:n.*65T>A
NM_002863.4:c.*65T>A	NP_002854.3:n.*65T>A
NM_002863.5:c.*65T>A MANE Select	NP_002854.3:n.*65T>A
NM_001163940.2:c.*65T>A	NP_001157412.1:n.*65T>A