Canonical Allele Identifier: CA7183523

Gene: PYGL

Linked Data

• dbSNP Id: rs369807908
• ExAC: 14:51382509 T / A
• gnomAD v2: 14-51382509-T-A
• gnomAD v3: 14-50915791-T-A
• gnomAD v4: 14-50915791-T-A
• MyVariant Identifiers: chr14:g.51382509T>A (hg19) ; chr14:g.50915791T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50915791T>A , CM000676.2:g.50915791T>A	GRCh38
NC_000014.8:g.51382509T>A , CM000676.1:g.51382509T>A	GRCh37
NC_000014.7:g.50452259T>A	NCBI36
NG_012796.1:g.33740A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.1239+34A>T MANE Select	ENSP00000216392.7:n.1239+34A>T
ENST00000216392.7:c.1239+34A>T	ENSP00000216392.7:n.1239+34A>T
ENST00000528757.2:n.116+34A>T
ENST00000532462.5:c.1239+34A>T	ENSP00000431657.1:n.1239+34A>T
ENST00000544180.6:c.1137+34A>T	ENSP00000443787.1:n.1137+34A>T
NM_001163940.1:c.1137+34A>T	NP_001157412.1:n.1137+34A>T
NM_002863.4:c.1239+34A>T	NP_002854.3:n.1239+34A>T
NM_002863.5:c.1239+34A>T MANE Select	NP_002854.3:n.1239+34A>T
NM_001163940.2:c.1137+34A>T	NP_001157412.1:n.1137+34A>T