Canonical Allele Identifier: CA2136434149
Community Standard Title: NM_002863.5(PYGL):c.345+923A=
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50936813T= , CM000676.2:g.50936813T= GRCh38
NC_000014.8:g.51403531T= , CM000676.1:g.51403531T= GRCh37
NC_000014.7:g.50473281T= NCBI36
NG_012796.1:g.12718A=

Transcript Alleles

HGVS Amino-acid Change
NM_002863.5:c.345+923A= MANE Select NP_002854.3:n.345+923A=
ENST00000216392.8:c.345+923A= MANE Select ENSP00000216392.7:n.345+923A=
NM_001163940.1:c.244-1628A= NP_001157412.1:n.244-1628A=
NM_001163940.2:c.244-1628A= NP_001157412.1:n.244-1628A=
NM_002863.4:c.345+923A= NP_002854.3:n.345+923A=
ENST00000216392.7:c.345+923A= ENSP00000216392.7:n.345+923A=
ENST00000530336.2:n.412+923A=
ENST00000532462.5:c.345+923A= ENSP00000431657.1:n.345+923A=
ENST00000544180.6:c.244-1628A= ENSP00000443787.1:n.244-1628A=