Canonical Allele Identifier: CA2575647843
Gene: NIPA1 HGNC NCBI

Linked Data

gnomAD v4: 15-22786637-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786637G>T , CM000677.2:g.22786637G>T GRCh38
NC_000015.9:g.23086431C>A , CM000677.1:g.23086431C>A GRCh37
NC_000015.8:g.20637872C>A NCBI36
NG_009056.1:g.5413G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.8:c.-20G>T ENSP00000337452.4:n.-20G>T
ENST00000437912.6:c.-48+12324G>T ENSP00000393962.2:n.-48+12324G>T
ENST00000560069.5:n.31+389G>T
ENST00000561183.5:c.-48+389G>T ENSP00000453722.1:n.-48+389G>T
NM_001142275.1:c.-48+389G>T NP_001135747.1:n.-48+389G>T
NM_144599.4:c.-20G>T NP_653200.2:n.-20G>T
Search 100 bp 5'
Search 100 bp 3'