Canonical Allele Identifier: CA2627248863
Gene: NIPA1 HGNC NCBI

Linked Data

gnomAD v4: 15-22786590-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786590T>C , CM000677.2:g.22786590T>C GRCh38
NC_000015.9:g.23086478A>G , CM000677.1:g.23086478A>G GRCh37
NC_000015.8:g.20637919A>G NCBI36
NG_009056.1:g.5366T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000437912.6:c.-48+12277T>C ENSP00000393962.2:n.-48+12277T>C
ENST00000560069.5:n.31+342T>C
ENST00000561183.5:c.-48+342T>C ENSP00000453722.1:n.-48+342T>C
NM_001142275.1:c.-48+342T>C NP_001135747.1:n.-48+342T>C
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