Canonical Allele Identifier: CA120295306
Gene: NT5ELP HGNC NCBI

Linked Data

dbSNP Id: rs756405882
gnomAD v2: 5-63742270-A-G
gnomAD v3: 5-64446443-A-G
gnomAD v4: 5-64446443-A-G
MyVariant Identifiers: chr5:g.63742270A>G (hg19) chr5:g.64446443A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.64446443A>G , CM000667.2:g.64446443A>G GRCh38
NC_000005.9:g.63742270A>G , CM000667.1:g.63742270A>G GRCh37
NC_000005.8:g.63778026A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438016.2:n.222+4228T>C
Search 100 bp 5'
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