Canonical Allele Identifier: CA560104972

Gene: NT5ELP

Linked Data

• dbSNP Id: rs1367531288
• gnomAD v2: 5-63742254-C-A
• gnomAD v3: 5-64446427-C-A
• gnomAD v4: 5-64446427-C-A
• MyVariant Identifiers: chr5:g.63742254C>A (hg19) ; chr5:g.64446427C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.64446427C>A , CM000667.2:g.64446427C>A	GRCh38
NC_000005.9:g.63742254C>A , CM000667.1:g.63742254C>A	GRCh37
NC_000005.8:g.63778010C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000438016.2:n.222+4244G>T