Canonical Allele Identifier: CA120295310

Gene: NT5ELP

Linked Data

• dbSNP Id: rs750637411
• gnomAD v3: 5-64446452-C-A
• gnomAD v4: 5-64446452-C-A
• MyVariant Identifiers: chr5:g.63742279C>A (hg19) ; chr5:g.64446452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.64446452C>A , CM000667.2:g.64446452C>A	GRCh38
NC_000005.9:g.63742279C>A , CM000667.1:g.63742279C>A	GRCh37
NC_000005.8:g.63778035C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000438016.2:n.222+4219G>T