Canonical Allele Identifier: CA7426220
Gene: NIPA1 HGNC NCBI

Linked Data

dbSNP Id: rs752255834
ExAC: 15:23086330 C / T
gnomAD v2: 15-23086330-C-T
gnomAD v3: 15-22786738-G-A
gnomAD v4: 15-22786738-G-A
MyVariant Identifiers: chr15:g.23086330C>T (hg19) chr15:g.22786738G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786738G>A , CM000677.2:g.22786738G>A GRCh38
NC_000015.9:g.23086330C>T , CM000677.1:g.23086330C>T GRCh37
NC_000015.8:g.20637771C>T NCBI36
NG_009056.1:g.5514G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.82G>A MANE Select ENSP00000337452.4:p.Val28Met
ENST00000337435.8:c.82G>A ENSP00000337452.4:p.Val28Met
ENST00000437912.6:c.-48+12425G>A ENSP00000393962.2:n.-48+12425G>A
ENST00000560069.5:n.31+490G>A
ENST00000561183.5:c.-48+490G>A ENSP00000453722.1:n.-48+490G>A
NM_001142275.1:c.-48+490G>A NP_001135747.1:n.-48+490G>A
NM_144599.4:c.82G>A NP_653200.2:p.Val28Met
NM_144599.5:c.82G>A MANE Select NP_653200.2:p.Val28Met
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