Canonical Allele Identifier: CA2136411067

Gene: PYGL

Linked Data

• dbSNP Id: rs2050319652

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905324A>C , CM000676.2:g.50905324A>C	GRCh38
NC_000014.8:g.51372042A>C , CM000676.1:g.51372042A>C	GRCh37
NC_000014.7:g.50441792A>C	NCBI36
NG_012796.1:g.44207T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.*68T>G MANE Select	ENSP00000216392.7:n.*68T>G
ENST00000216392.7:c.*68T>G	ENSP00000216392.7:n.*68T>G
ENST00000532462.5:c.2379+2947T>G	ENSP00000431657.1:n.2379+2947T>G
ENST00000544180.6:c.*68T>G	ENSP00000443787.1:n.*68T>G
NM_001163940.1:c.*68T>G	NP_001157412.1:n.*68T>G
NM_002863.4:c.*68T>G	NP_002854.3:n.*68T>G
NM_002863.5:c.*68T>G MANE Select	NP_002854.3:n.*68T>G
NM_001163940.2:c.*68T>G	NP_001157412.1:n.*68T>G