Canonical Allele Identifier: CA488751716

Gene: NIPA1

Linked Data

• dbSNP Id: rs1474044136
• gnomAD v3: 15-22786674-G-T
• gnomAD v4: 15-22786674-G-T
• MyVariant Identifiers: chr15:g.23086394C>A (hg19) ; chr15:g.22786674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786674G>T , CM000677.2:g.22786674G>T	GRCh38
NC_000015.9:g.23086394C>A , CM000677.1:g.23086394C>A	GRCh37
NC_000015.8:g.20637835C>A	NCBI36
NG_009056.1:g.5450G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.18G>T MANE Select	ENSP00000337452.4:p.Ala6=
ENST00000337435.8:c.18G>T	ENSP00000337452.4:p.Ala6=
ENST00000437912.6:c.-48+12361G>T	ENSP00000393962.2:n.-48+12361G>T
ENST00000560069.5:n.31+426G>T
ENST00000561183.5:c.-48+426G>T	ENSP00000453722.1:n.-48+426G>T
NM_001142275.1:c.-48+426G>T	NP_001135747.1:n.-48+426G>T
NM_144599.4:c.18G>T	NP_653200.2:p.Ala6=
NM_144599.5:c.18G>T MANE Select	NP_653200.2:p.Ala6=