Canonical Allele Identifier: CA488752404

Gene: NIPA1

Linked Data

• gnomAD v4: 15-22786770-G-T
• MyVariant Identifiers: chr15:g.23086298C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786770G>T , CM000677.2:g.22786770G>T	GRCh38
NC_000015.9:g.23086298C>A , CM000677.1:g.23086298C>A	GRCh37
NC_000015.8:g.20637739C>A	NCBI36
NG_009056.1:g.5546G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.114G>T MANE Select	ENSP00000337452.4:p.Ser38=
ENST00000337435.8:c.114G>T	ENSP00000337452.4:p.Ser38=
ENST00000437912.6:c.-48+12457G>T	ENSP00000393962.2:n.-48+12457G>T
ENST00000559448.5:c.4G>T
ENST00000560069.5:n.31+522G>T
ENST00000560105.1:n.13G>T
ENST00000561183.5:c.-48+522G>T	ENSP00000453722.1:n.-48+522G>T
NM_001142275.1:c.-48+522G>T	NP_001135747.1:n.-48+522G>T
NM_144599.4:c.114G>T	NP_653200.2:p.Ser38=
NM_144599.5:c.114G>T MANE Select	NP_653200.2:p.Ser38=