Canonical Allele Identifier: CA488751701

Gene: NIPA1

Linked Data

• dbSNP Id: rs1455504935
• gnomAD v3: 15-22786671-T-A
• gnomAD v4: 15-22786671-T-A
• MyVariant Identifiers: chr15:g.23086397A>T (hg19) ; chr15:g.22786671T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786671T>A , CM000677.2:g.22786671T>A	GRCh38
NC_000015.9:g.23086397A>T , CM000677.1:g.23086397A>T	GRCh37
NC_000015.8:g.20637838A>T	NCBI36
NG_009056.1:g.5447T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.15T>A MANE Select	ENSP00000337452.4:p.Ala5=
ENST00000337435.8:c.15T>A	ENSP00000337452.4:p.Ala5=
ENST00000437912.6:c.-48+12358T>A	ENSP00000393962.2:n.-48+12358T>A
ENST00000560069.5:n.31+423T>A
ENST00000561183.5:c.-48+423T>A	ENSP00000453722.1:n.-48+423T>A
NM_001142275.1:c.-48+423T>A	NP_001135747.1:n.-48+423T>A
NM_144599.4:c.15T>A	NP_653200.2:p.Ala5=
NM_144599.5:c.15T>A MANE Select	NP_653200.2:p.Ala5=