Canonical Allele Identifier: CA240710

Gene: PYGL

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50911799C>G , CM000676.2:g.50911799C>G	GRCh38
NC_000014.8:g.51378517C>G , CM000676.1:g.51378517C>G	GRCh37
NC_000014.7:g.50448267C>G	NCBI36
NG_012796.1:g.37732G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1900G>C MANE Select	ENSP00000216392.7:p.Asp634His
ENST00000216392.7:c.1900G>C	ENSP00000216392.7:p.Asp634His
ENST00000532107.2:n.73G>C
ENST00000532462.5:c.1900G>C	ENSP00000431657.1:p.Asp634His
ENST00000544180.6:c.1798G>C	ENSP00000443787.1:p.Asp600His
NM_001163940.1:c.1798G>C	NP_001157412.1:p.Asp600His
NM_002863.4:c.1900G>C	NP_002854.3:p.Asp634His
NM_002863.5:c.1900G>C MANE Select	NP_002854.3:p.Asp634His
NM_001163940.2:c.1798G>C	NP_001157412.1:p.Asp600His