Canonical Allele Identifier: CA389678875
Gene: PYGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905447G>C , CM000676.2:g.50905447G>C GRCh38
NC_000014.8:g.51372165G>C , CM000676.1:g.51372165G>C GRCh37
NC_000014.7:g.50441915G>C NCBI36
NG_012796.1:g.44084C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2489C>G MANE Select ENSP00000216392.7:p.Pro830Arg
ENST00000216392.7:c.2489C>G ENSP00000216392.7:p.Pro830Arg
ENST00000532462.5:c.2379+2824C>G ENSP00000431657.1:n.2379+2824C>G
ENST00000544180.6:c.2387C>G ENSP00000443787.1:p.Pro796Arg
NM_001163940.1:c.2387C>G NP_001157412.1:p.Pro796Arg
NM_002863.4:c.2489C>G NP_002854.3:p.Pro830Arg
NM_002863.5:c.2489C>G MANE Select NP_002854.3:p.Pro830Arg
NM_001163940.2:c.2387C>G NP_001157412.1:p.Pro796Arg