Canonical Allele Identifier: CA486375519

Gene: PYGL

Linked Data

• dbSNP Id: rs2050376243
• gnomAD v3: 14-50909975-T-C
• gnomAD v4: 14-50909975-T-C
• MyVariant Identifiers: chr14:g.51376693T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50909975T>C , CM000676.2:g.50909975T>C	GRCh38
NC_000014.8:g.51376693T>C , CM000676.1:g.51376693T>C	GRCh37
NC_000014.7:g.50446443T>C	NCBI36
NG_012796.1:g.39556A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2097A>G MANE Select	ENSP00000216392.7:p.Glu699=
ENST00000216392.7:c.2097A>G	ENSP00000216392.7:p.Glu699=
ENST00000532107.2:n.270A>G
ENST00000532462.5:c.2097A>G	ENSP00000431657.1:p.Glu699=
ENST00000544180.6:c.1995A>G	ENSP00000443787.1:p.Glu665=
NM_001163940.1:c.1995A>G	NP_001157412.1:p.Glu665=
NM_002863.4:c.2097A>G	NP_002854.3:p.Glu699=
NM_002863.5:c.2097A>G MANE Select	NP_002854.3:p.Glu699=
NM_001163940.2:c.1995A>G	NP_001157412.1:p.Glu665=