Canonical Allele Identifier: CA1076864932
Gene: NT5ELP HGNC NCBI

Linked Data

gnomAD v3: 5-64446450-T-A
gnomAD v4: 5-64446450-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.64446450T>A , CM000667.2:g.64446450T>A GRCh38
NC_000005.9:g.63742277T>A , CM000667.1:g.63742277T>A GRCh37
NC_000005.8:g.63778033T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438016.2:n.222+4221A>T
Search 100 bp 5'
Search 100 bp 3'