Canonical Allele Identifier: CA2163930233
Gene: NIPA1 HGNC NCBI

Linked Data

dbSNP Id: rs1895629363
gnomAD v4: 15-22825335-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22825335T>C , CM000677.2:g.22825335T>C GRCh38
NC_000015.9:g.23047733A>G , CM000677.1:g.23047733A>G GRCh37
NC_000015.8:g.20599174A>G NCBI36
NG_009056.1:g.44111T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.*1096T>C MANE Select ENSP00000337452.4:n.*1096T>C
ENST00000337435.8:c.*1096T>C ENSP00000337452.4:n.*1096T>C
ENST00000437912.6:c.*1096T>C ENSP00000393962.2:n.*1096T>C
ENST00000559448.5:c.2058T>C
NM_001142275.1:c.*1096T>C NP_001135747.1:n.*1096T>C
NM_144599.4:c.*1096T>C NP_653200.2:n.*1096T>C
NM_144599.5:c.*1096T>C MANE Select NP_653200.2:n.*1096T>C
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