ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA950754144
Gene: PGAM1P5
HGNC
NCBI
Linked Data
dbSNP Id:
rs2077782737
gnomAD v3:
12-95566100-T-C
gnomAD v4:
12-95566100-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.95566100T>C , CM000674.2:g.95566100T>C
GRCh38
NC_000012.11:g.95959876T>C , CM000674.1:g.95959876T>C
GRCh37
NC_000012.10:g.94484007T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000626376.2:n.219+14300T>C
Search 100 bp 5'
Search 100 bp 3'