Canonical Allele Identifier: CA7426218
Gene: NIPA1 HGNC NCBI

Linked Data

dbSNP Id: rs759070084
ExAC: 15:23086325 C / A
gnomAD v2: 15-23086325-C-A
gnomAD v4: 15-22786743-G-T
MyVariant Identifiers: chr15:g.23086325C>A (hg19) chr15:g.22786743G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786743G>T , CM000677.2:g.22786743G>T GRCh38
NC_000015.9:g.23086325C>A , CM000677.1:g.23086325C>A GRCh37
NC_000015.8:g.20637766C>A NCBI36
NG_009056.1:g.5519G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.87G>T MANE Select ENSP00000337452.4:p.Ser29=
ENST00000337435.8:c.87G>T ENSP00000337452.4:p.Ser29=
ENST00000437912.6:c.-48+12430G>T ENSP00000393962.2:n.-48+12430G>T
ENST00000560069.5:n.31+495G>T
ENST00000561183.5:c.-48+495G>T ENSP00000453722.1:n.-48+495G>T
NM_001142275.1:c.-48+495G>T NP_001135747.1:n.-48+495G>T
NM_144599.4:c.87G>T NP_653200.2:p.Ser29=
NM_144599.5:c.87G>T MANE Select NP_653200.2:p.Ser29=
Search 100 bp 5'
Search 100 bp 3'