Canonical Allele Identifier: CA267581014

Gene: NIPA1

Linked Data

• dbSNP Id: rs976686334
• gnomAD v3: 15-22786669-G-A
• gnomAD v4: 15-22786669-G-A
• MyVariant Identifiers: chr15:g.23086399C>T (hg19) ; chr15:g.22786669G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786669G>A , CM000677.2:g.22786669G>A	GRCh38
NC_000015.9:g.23086399C>T , CM000677.1:g.23086399C>T	GRCh37
NC_000015.8:g.20637840C>T	NCBI36
NG_009056.1:g.5445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.13G>A MANE Select	ENSP00000337452.4:p.Ala5Thr
ENST00000337435.8:c.13G>A	ENSP00000337452.4:p.Ala5Thr
ENST00000437912.6:c.-48+12356G>A	ENSP00000393962.2:n.-48+12356G>A
ENST00000560069.5:n.31+421G>A
ENST00000561183.5:c.-48+421G>A	ENSP00000453722.1:n.-48+421G>A
NM_001142275.1:c.-48+421G>A	NP_001135747.1:n.-48+421G>A
NM_144599.4:c.13G>A	NP_653200.2:p.Ala5Thr
NM_144599.5:c.13G>A MANE Select	NP_653200.2:p.Ala5Thr