Canonical Allele Identifier: CA560104969
Gene: NT5ELP HGNC NCBI

Linked Data

dbSNP Id: rs1260185435
gnomAD v2: 5-63742240-G-C
gnomAD v3: 5-64446413-G-C
gnomAD v4: 5-64446413-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.64446413G>C , CM000667.2:g.64446413G>C GRCh38
NC_000005.9:g.63742240G>C , CM000667.1:g.63742240G>C GRCh37
NC_000005.8:g.63777996G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438016.2:n.222+4258C>G