Canonical Allele Identifier: CA1076864892
Gene: NT5ELP HGNC NCBI

Linked Data

dbSNP Id: rs1747846954
gnomAD v3: 5-64446424-C-G
gnomAD v4: 5-64446424-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.64446424C>G , CM000667.2:g.64446424C>G GRCh38
NC_000005.9:g.63742251C>G , CM000667.1:g.63742251C>G GRCh37
NC_000005.8:g.63778007C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438016.2:n.222+4247G>C
Search 100 bp 5'
Search 100 bp 3'