Canonical Allele Identifier: CA2624830109
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50944496-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944496G>A , CM000676.2:g.50944496G>A GRCh38
NC_000014.8:g.51411214G>A , CM000676.1:g.51411214G>A GRCh37
NC_000014.7:g.50480964G>A NCBI36
NG_012796.1:g.5035C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.7:c.-93C>T ENSP00000216392.7:n.-93C>T
NM_001163940.1:c.-93C>T NP_001157412.1:n.-93C>T
NM_002863.4:c.-93C>T NP_002854.3:n.-93C>T
Search 100 bp 5'
Search 100 bp 3'