Canonical Allele Identifier: CA389679015
Gene: PYGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905479T>A , CM000676.2:g.50905479T>A GRCh38
NC_000014.8:g.51372197T>A , CM000676.1:g.51372197T>A GRCh37
NC_000014.7:g.50441947T>A NCBI36
NG_012796.1:g.44052A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2457A>T MANE Select ENSP00000216392.7:p.Lys819Asn
ENST00000216392.7:c.2457A>T ENSP00000216392.7:p.Lys819Asn
ENST00000532462.5:c.2379+2792A>T ENSP00000431657.1:n.2379+2792A>T
ENST00000544180.6:c.2355A>T ENSP00000443787.1:p.Lys785Asn
NM_001163940.1:c.2355A>T NP_001157412.1:p.Lys785Asn
NM_002863.4:c.2457A>T NP_002854.3:p.Lys819Asn
NM_002863.5:c.2457A>T MANE Select NP_002854.3:p.Lys819Asn
NM_001163940.2:c.2355A>T NP_001157412.1:p.Lys785Asn