Canonical Allele Identifier: CA1076864909
Gene: NT5ELP HGNC NCBI

Linked Data

gnomAD v3: 5-64446444-C-A
gnomAD v4: 5-64446444-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.64446444C>A , CM000667.2:g.64446444C>A GRCh38
NC_000005.9:g.63742271C>A , CM000667.1:g.63742271C>A GRCh37
NC_000005.8:g.63778027C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438016.2:n.222+4227G>T
Search 100 bp 5'
Search 100 bp 3'