Canonical Allele Identifier: CA1076864904

Gene: NT5ELP

Linked Data

• dbSNP Id: rs1367531288
• gnomAD v3: 5-64446427-C-T
• gnomAD v4: 5-64446427-C-T

Genomic Alleles

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

Transcript Alleles

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