Canonical Allele Identifier: CA2565419986

Gene: PYGL

Linked Data

• gnomAD v4: 14-50937622-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50937622G>A , CM000676.2:g.50937622G>A	GRCh38
NC_000014.8:g.51404340G>A , CM000676.1:g.51404340G>A	GRCh37
NC_000014.7:g.50474090G>A	NCBI36
NG_012796.1:g.11909C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.345+114C>T MANE Select	ENSP00000216392.7:n.345+114C>T
ENST00000216392.7:c.345+114C>T	ENSP00000216392.7:n.345+114C>T
ENST00000530336.2:n.412+114C>T
ENST00000532462.5:c.345+114C>T	ENSP00000431657.1:n.345+114C>T
ENST00000544180.6:c.244-2437C>T	ENSP00000443787.1:n.244-2437C>T
NM_001163940.1:c.244-2437C>T	NP_001157412.1:n.244-2437C>T
NM_002863.4:c.345+114C>T	NP_002854.3:n.345+114C>T
NM_002863.5:c.345+114C>T MANE Select	NP_002854.3:n.345+114C>T
NM_001163940.2:c.244-2437C>T	NP_001157412.1:n.244-2437C>T