Canonical Allele Identifier: CA967611884
Gene: NIPA1 HGNC NCBI

Linked Data

dbSNP Id: rs1286380250
gnomAD v3: 15-22786629-G-T
gnomAD v4: 15-22786629-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786629G>T , CM000677.2:g.22786629G>T GRCh38
NC_000015.9:g.23086439C>A , CM000677.1:g.23086439C>A GRCh37
NC_000015.8:g.20637880C>A NCBI36
NG_009056.1:g.5405G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000437912.6:c.-48+12316G>T ENSP00000393962.2:n.-48+12316G>T
ENST00000560069.5:n.31+381G>T
ENST00000561183.5:c.-48+381G>T ENSP00000453722.1:n.-48+381G>T
NM_001142275.1:c.-48+381G>T NP_001135747.1:n.-48+381G>T
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