Canonical Allele Identifier: CA2624827369

Gene: PYGL

Linked Data

• gnomAD v4: 14-50911583-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50911583C>A , CM000676.2:g.50911583C>A	GRCh38
NC_000014.8:g.51378301C>A , CM000676.1:g.51378301C>A	GRCh37
NC_000014.7:g.50448051C>A	NCBI36
NG_012796.1:g.37948G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1969+147G>T MANE Select	ENSP00000216392.7:n.1969+147G>T
ENST00000216392.7:c.1969+147G>T	ENSP00000216392.7:n.1969+147G>T
ENST00000532107.2:n.142+147G>T
ENST00000532462.5:c.1969+147G>T	ENSP00000431657.1:n.1969+147G>T
ENST00000544180.6:c.1867+147G>T	ENSP00000443787.1:n.1867+147G>T
NM_001163940.1:c.1867+147G>T	NP_001157412.1:n.1867+147G>T
NM_002863.4:c.1969+147G>T	NP_002854.3:n.1969+147G>T
NM_002863.5:c.1969+147G>T MANE Select	NP_002854.3:n.1969+147G>T
NM_001163940.2:c.1867+147G>T	NP_001157412.1:n.1867+147G>T