Canonical Allele Identifier: CA2575525389

Gene: PYGL

Linked Data

• gnomAD v4: 14-50911708-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50911708T>G , CM000676.2:g.50911708T>G	GRCh38
NC_000014.8:g.51378426T>G , CM000676.1:g.51378426T>G	GRCh37
NC_000014.7:g.50448176T>G	NCBI36
NG_012796.1:g.37823A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1969+22A>C MANE Select	ENSP00000216392.7:n.1969+22A>C
ENST00000216392.7:c.1969+22A>C	ENSP00000216392.7:n.1969+22A>C
ENST00000532107.2:n.142+22A>C
ENST00000532462.5:c.1969+22A>C	ENSP00000431657.1:n.1969+22A>C
ENST00000544180.6:c.1867+22A>C	ENSP00000443787.1:n.1867+22A>C
NM_001163940.1:c.1867+22A>C	NP_001157412.1:n.1867+22A>C
NM_002863.4:c.1969+22A>C	NP_002854.3:n.1969+22A>C
NM_002863.5:c.1969+22A>C MANE Select	NP_002854.3:n.1969+22A>C
NM_001163940.2:c.1867+22A>C	NP_001157412.1:n.1867+22A>C