Canonical Allele Identifier: CA1076864923
Gene: NT5ELP HGNC NCBI

Linked Data

dbSNP Id: rs1747847248
gnomAD v3: 5-64446447-T-A
gnomAD v4: 5-64446447-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.64446447T>A , CM000667.2:g.64446447T>A GRCh38
NC_000005.9:g.63742274T>A , CM000667.1:g.63742274T>A GRCh37
NC_000005.8:g.63778030T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438016.2:n.222+4224A>T
Search 100 bp 5'
Search 100 bp 3'