Canonical Allele Identifier: CA2136418851
Gene: PYGL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50914665G= , CM000676.2:g.50914665G= GRCh38
NC_000014.8:g.51381383G= , CM000676.1:g.51381383G= GRCh37
NC_000014.7:g.50451133G= NCBI36
NG_012796.1:g.34866C=

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.1518+36C= MANE Select ENSP00000216392.7:n.1518+36C=
ENST00000216392.7:c.1518+36C= ENSP00000216392.7:n.1518+36C=
ENST00000532462.5:c.1518+36C= ENSP00000431657.1:n.1518+36C=
ENST00000544180.6:c.1416+36C= ENSP00000443787.1:n.1416+36C=
NM_001163940.1:c.1416+36C= NP_001157412.1:n.1416+36C=
NM_002863.4:c.1518+36C= NP_002854.3:n.1518+36C=
NM_002863.5:c.1518+36C= MANE Select NP_002854.3:n.1518+36C=
NM_001163940.2:c.1416+36C= NP_001157412.1:n.1416+36C=
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