Canonical Allele Identifier: CA391298207
Gene: NIPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1482547
ClinVar RCV Id: RCV002025206
dbSNP Id: rs1416457811
gnomAD v2: 15-23086392-G-A
gnomAD v4: 15-22786676-C-T
MyVariant Identifiers: chr15:g.23086392G>A (hg19) chr15:g.22786676C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786676C>T , CM000677.2:g.22786676C>T GRCh38
NC_000015.9:g.23086392G>A , CM000677.1:g.23086392G>A GRCh37
NC_000015.8:g.20637833G>A NCBI36
NG_009056.1:g.5452C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.20C>T MANE Select ENSP00000337452.4:p.Ala7Val
ENST00000337435.8:c.20C>T ENSP00000337452.4:p.Ala7Val
ENST00000437912.6:c.-48+12363C>T ENSP00000393962.2:n.-48+12363C>T
ENST00000560069.5:n.31+428C>T
ENST00000561183.5:c.-48+428C>T ENSP00000453722.1:n.-48+428C>T
NM_001142275.1:c.-48+428C>T NP_001135747.1:n.-48+428C>T
NM_144599.4:c.20C>T NP_653200.2:p.Ala7Val
NM_144599.5:c.20C>T MANE Select NP_653200.2:p.Ala7Val
Search 100 bp 5'
Search 100 bp 3'