Canonical Allele Identifier: CA706601444

Gene: PYGL

Linked Data

• dbSNP Id: rs1265350306
• gnomAD v4: 14-50905279-C-A
• MyVariant Identifiers: chr14:g.51371997C>A (hg19) ; chr14:g.50905279C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905279C>A , CM000676.2:g.50905279C>A	GRCh38
NC_000014.8:g.51371997C>A , CM000676.1:g.51371997C>A	GRCh37
NC_000014.7:g.50441747C>A	NCBI36
NG_012796.1:g.44252G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.*113G>T MANE Select	ENSP00000216392.7:n.*113G>T
ENST00000216392.7:c.*113G>T	ENSP00000216392.7:n.*113G>T
ENST00000532462.5:c.2379+2992G>T	ENSP00000431657.1:n.2379+2992G>T
ENST00000544180.6:c.*113G>T	ENSP00000443787.1:n.*113G>T
NM_001163940.1:c.*113G>T	NP_001157412.1:n.*113G>T
NM_002863.4:c.*113G>T	NP_002854.3:n.*113G>T
NM_002863.5:c.*113G>T MANE Select	NP_002854.3:n.*113G>T
NM_001163940.2:c.*113G>T	NP_001157412.1:n.*113G>T