Canonical Allele Identifier: CA7183526

Gene: PYGL

Linked Data

• dbSNP Id: rs375047812
• ExAC: 14:51382519 A / G
• gnomAD v2: 14-51382519-A-G
• gnomAD v3: 14-50915801-A-G
• gnomAD v4: 14-50915801-A-G
• MyVariant Identifiers: chr14:g.51382519A>G (hg19) ; chr14:g.50915801A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50915801A>G , CM000676.2:g.50915801A>G	GRCh38
NC_000014.8:g.51382519A>G , CM000676.1:g.51382519A>G	GRCh37
NC_000014.7:g.50452269A>G	NCBI36
NG_012796.1:g.33730T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.1239+24T>C MANE Select	ENSP00000216392.7:n.1239+24T>C
ENST00000216392.7:c.1239+24T>C	ENSP00000216392.7:n.1239+24T>C
ENST00000528757.2:n.116+24T>C
ENST00000532462.5:c.1239+24T>C	ENSP00000431657.1:n.1239+24T>C
ENST00000544180.6:c.1137+24T>C	ENSP00000443787.1:n.1137+24T>C
NM_001163940.1:c.1137+24T>C	NP_001157412.1:n.1137+24T>C
NM_002863.4:c.1239+24T>C	NP_002854.3:n.1239+24T>C
NM_002863.5:c.1239+24T>C MANE Select	NP_002854.3:n.1239+24T>C
NM_001163940.2:c.1137+24T>C	NP_001157412.1:n.1137+24T>C