Canonical Allele Identifier: CA120295307

Gene: NT5ELP

Linked Data

• dbSNP Id: rs188225376
• gnomAD v3: 5-64446444-C-G
• gnomAD v4: 5-64446444-C-G
• MyVariant Identifiers: chr5:g.63742271C>G (hg19) ; chr5:g.64446444C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000438016.2:n.222+4227G>C