Canonical Allele Identifier: CA389678714
Gene: PYGL HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.51372132G>C (hg19) chr14:g.50905414G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905414G>C , CM000676.2:g.50905414G>C GRCh38
NC_000014.8:g.51372132G>C , CM000676.1:g.51372132G>C GRCh37
NC_000014.7:g.50441882G>C NCBI36
NG_012796.1:g.44117C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2522C>G MANE Select ENSP00000216392.7:p.Ser841Cys
ENST00000216392.7:c.2522C>G ENSP00000216392.7:p.Ser841Cys
ENST00000532462.5:c.2379+2857C>G ENSP00000431657.1:n.2379+2857C>G
ENST00000544180.6:c.2420C>G ENSP00000443787.1:p.Ser807Cys
NM_001163940.1:c.2420C>G NP_001157412.1:p.Ser807Cys
NM_002863.4:c.2522C>G NP_002854.3:p.Ser841Cys
NM_002863.5:c.2522C>G MANE Select NP_002854.3:p.Ser841Cys
NM_001163940.2:c.2420C>G NP_001157412.1:p.Ser807Cys
Search 100 bp 5'
Search 100 bp 3'