Canonical Allele Identifier: CA2624828932

Gene: PYGL

Linked Data

• gnomAD v4: 14-50937907-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50937907T>G , CM000676.2:g.50937907T>G	GRCh38
NC_000014.8:g.51404625T>G , CM000676.1:g.51404625T>G	GRCh37
NC_000014.7:g.50474375T>G	NCBI36
NG_012796.1:g.11624A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.244-70A>C MANE Select	ENSP00000216392.7:n.244-70A>C
ENST00000216392.7:c.244-70A>C	ENSP00000216392.7:n.244-70A>C
ENST00000530336.2:n.311-70A>C
ENST00000532462.5:c.244-70A>C	ENSP00000431657.1:n.244-70A>C
ENST00000544180.6:c.244-2722A>C	ENSP00000443787.1:n.244-2722A>C
NM_001163940.1:c.244-2722A>C	NP_001157412.1:n.244-2722A>C
NM_002863.4:c.244-70A>C	NP_002854.3:n.244-70A>C
NM_002863.5:c.244-70A>C MANE Select	NP_002854.3:n.244-70A>C
NM_001163940.2:c.244-2722A>C	NP_001157412.1:n.244-2722A>C