Canonical Allele Identifier: CA389697479

Gene: PYGL

Linked Data

• dbSNP Id: rs2050666856
• gnomAD v4: 14-50937737-T-C
• MyVariant Identifiers: chr14:g.51404455T>C (hg19) ; chr14:g.50937737T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50937737T>C , CM000676.2:g.50937737T>C	GRCh38
NC_000014.8:g.51404455T>C , CM000676.1:g.51404455T>C	GRCh37
NC_000014.7:g.50474205T>C	NCBI36
NG_012796.1:g.11794A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.344A>G MANE Select	ENSP00000216392.7:p.Gln115Arg
ENST00000216392.7:c.344A>G	ENSP00000216392.7:p.Gln115Arg
ENST00000530336.2:n.411A>G
ENST00000532462.5:c.344A>G	ENSP00000431657.1:p.Gln115Arg
ENST00000544180.6:c.244-2552A>G	ENSP00000443787.1:n.244-2552A>G
NM_001163940.1:c.244-2552A>G	NP_001157412.1:n.244-2552A>G
NM_002863.4:c.344A>G	NP_002854.3:p.Gln115Arg
NM_002863.5:c.344A>G MANE Select	NP_002854.3:p.Gln115Arg
NM_001163940.2:c.244-2552A>G	NP_001157412.1:n.244-2552A>G