Canonical Allele Identifier: CA2627248913
Gene: NIPA1 HGNC NCBI

Linked Data

gnomAD v4: 15-22786619-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786619G>A , CM000677.2:g.22786619G>A GRCh38
NC_000015.9:g.23086449C>T , CM000677.1:g.23086449C>T GRCh37
NC_000015.8:g.20637890C>T NCBI36
NG_009056.1:g.5395G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000437912.6:c.-48+12306G>A ENSP00000393962.2:n.-48+12306G>A
ENST00000560069.5:n.31+371G>A
ENST00000561183.5:c.-48+371G>A ENSP00000453722.1:n.-48+371G>A
NM_001142275.1:c.-48+371G>A NP_001135747.1:n.-48+371G>A
Search 100 bp 5'
Search 100 bp 3'