Canonical Allele Identifier: CA706628964

Gene: PYGL

Linked Data

• dbSNP Id: rs1376707587
• gnomAD v3: 14-50937900-C-T
• gnomAD v4: 14-50937900-C-T
• MyVariant Identifiers: chr14:g.51404618C>T (hg19) ; chr14:g.50937900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50937900C>T , CM000676.2:g.50937900C>T	GRCh38
NC_000014.8:g.51404618C>T , CM000676.1:g.51404618C>T	GRCh37
NC_000014.7:g.50474368C>T	NCBI36
NG_012796.1:g.11631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.244-63G>A MANE Select	ENSP00000216392.7:n.244-63G>A
ENST00000216392.7:c.244-63G>A	ENSP00000216392.7:n.244-63G>A
ENST00000530336.2:n.311-63G>A
ENST00000532462.5:c.244-63G>A	ENSP00000431657.1:n.244-63G>A
ENST00000544180.6:c.244-2715G>A	ENSP00000443787.1:n.244-2715G>A
NM_001163940.1:c.244-2715G>A	NP_001157412.1:n.244-2715G>A
NM_002863.4:c.244-63G>A	NP_002854.3:n.244-63G>A
NM_002863.5:c.244-63G>A MANE Select	NP_002854.3:n.244-63G>A
NM_001163940.2:c.244-2715G>A	NP_001157412.1:n.244-2715G>A