Canonical Allele Identifier: CA2575525312

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50909853G>T , CM000676.2:g.50909853G>T	GRCh38
NC_000014.8:g.51376571G>T , CM000676.1:g.51376571G>T	GRCh37
NC_000014.7:g.50446321G>T	NCBI36
NG_012796.1:g.39678C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2177+42C>A MANE Select	ENSP00000216392.7:n.2177+42C>A
ENST00000216392.7:c.2177+42C>A	ENSP00000216392.7:n.2177+42C>A
ENST00000532107.2:n.350+42C>A
ENST00000532462.5:c.2177+42C>A	ENSP00000431657.1:n.2177+42C>A
ENST00000544180.6:c.2075+42C>A	ENSP00000443787.1:n.2075+42C>A
NM_001163940.1:c.2075+42C>A	NP_001157412.1:n.2075+42C>A
NM_002863.4:c.2177+42C>A	NP_002854.3:n.2177+42C>A
NM_002863.5:c.2177+42C>A MANE Select	NP_002854.3:n.2177+42C>A
NM_001163940.2:c.2075+42C>A	NP_001157412.1:n.2075+42C>A