Canonical Allele Identifier: CA614275295

Gene: PYGL

Linked Data

• dbSNP Id: rs1566503224
• gnomAD v2: 14-51382520-G-C
• gnomAD v4: 14-50915802-G-C
• MyVariant Identifiers: chr14:g.51382520G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50915802G>C , CM000676.2:g.50915802G>C	GRCh38
NC_000014.8:g.51382520G>C , CM000676.1:g.51382520G>C	GRCh37
NC_000014.7:g.50452270G>C	NCBI36
NG_012796.1:g.33729C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.1239+23C>G MANE Select	ENSP00000216392.7:n.1239+23C>G
ENST00000216392.7:c.1239+23C>G	ENSP00000216392.7:n.1239+23C>G
ENST00000528757.2:n.116+23C>G
ENST00000532462.5:c.1239+23C>G	ENSP00000431657.1:n.1239+23C>G
ENST00000544180.6:c.1137+23C>G	ENSP00000443787.1:n.1137+23C>G
NM_001163940.1:c.1137+23C>G	NP_001157412.1:n.1137+23C>G
NM_002863.4:c.1239+23C>G	NP_002854.3:n.1239+23C>G
NM_002863.5:c.1239+23C>G MANE Select	NP_002854.3:n.1239+23C>G
NM_001163940.2:c.1137+23C>G	NP_001157412.1:n.1137+23C>G