Canonical Allele Identifier: CA445786589
Gene: PGAM5P1 HGNC NCBI
LINC01848 HGNC NCBI

Linked Data

dbSNP Id: rs1287178046
gnomAD v2: 5-109220930-C-T
gnomAD v3: 5-109885229-C-T
gnomAD v4: 5-109885229-C-T
MyVariant Identifiers: chr5:g.109220930C>T (hg19) chr5:g.109885229C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.109885229C>T , CM000667.2:g.109885229C>T GRCh38
NC_000005.9:g.109220930C>T , CM000667.1:g.109220930C>T GRCh37
NC_000005.8:g.109248829C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000518923.1:n.195G>A (PGAM5P1)
NR_033175.1:n.996C>T (LINC01848)
Search 100 bp 5'
Search 100 bp 3'