Canonical Allele Identifier: CA389699098

Gene: PYGL

Linked Data

• dbSNP Id: rs1374014307
• gnomAD v4: 14-50944169-A-C
• MyVariant Identifiers: chr14:g.51410887A>C (hg19) ; chr14:g.50944169A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944169A>C , CM000676.2:g.50944169A>C	GRCh38
NC_000014.8:g.51410887A>C , CM000676.1:g.51410887A>C	GRCh37
NC_000014.7:g.50480637A>C	NCBI36
NG_012796.1:g.5362T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.235T>G MANE Select	ENSP00000216392.7:p.Cys79Gly
ENST00000216392.7:c.235T>G	ENSP00000216392.7:p.Cys79Gly
ENST00000530336.2:n.302T>G
ENST00000532462.5:c.235T>G	ENSP00000431657.1:p.Cys79Gly
ENST00000544180.6:c.235T>G	ENSP00000443787.1:p.Cys79Gly
NM_001163940.1:c.235T>G	NP_001157412.1:p.Cys79Gly
NM_002863.4:c.235T>G	NP_002854.3:p.Cys79Gly
NM_002863.5:c.235T>G MANE Select	NP_002854.3:p.Cys79Gly
NM_001163940.2:c.235T>G	NP_001157412.1:p.Cys79Gly