Canonical Allele Identifier: CA391298288

Gene: NIPA1

Linked Data

• dbSNP Id: rs1263795707
• gnomAD v2: 15-23086377-G-A
• gnomAD v4: 15-22786691-C-T
• MyVariant Identifiers: chr15:g.23086377G>A (hg19) ; chr15:g.22786691C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786691C>T , CM000677.2:g.22786691C>T	GRCh38
NC_000015.9:g.23086377G>A , CM000677.1:g.23086377G>A	GRCh37
NC_000015.8:g.20637818G>A	NCBI36
NG_009056.1:g.5467C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337435.9:c.35C>T MANE Select	ENSP00000337452.4:p.Ala12Val
ENST00000337435.8:c.35C>T	ENSP00000337452.4:p.Ala12Val
ENST00000437912.6:c.-48+12378C>T	ENSP00000393962.2:n.-48+12378C>T
ENST00000560069.5:n.31+443C>T
ENST00000561183.5:c.-48+443C>T	ENSP00000453722.1:n.-48+443C>T
NM_001142275.1:c.-48+443C>T	NP_001135747.1:n.-48+443C>T
NM_144599.4:c.35C>T	NP_653200.2:p.Ala12Val
NM_144599.5:c.35C>T MANE Select	NP_653200.2:p.Ala12Val