Canonical Allele Identifier: CA488751690
Gene: NIPA1 HGNC NCBI

Linked Data

gnomAD v4: 15-22786668-A-C
MyVariant Identifiers: chr15:g.23086400T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786668A>C , CM000677.2:g.22786668A>C GRCh38
NC_000015.9:g.23086400T>G , CM000677.1:g.23086400T>G GRCh37
NC_000015.8:g.20637841T>G NCBI36
NG_009056.1:g.5444A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.12A>C MANE Select ENSP00000337452.4:p.Ala4=
ENST00000337435.8:c.12A>C ENSP00000337452.4:p.Ala4=
ENST00000437912.6:c.-48+12355A>C ENSP00000393962.2:n.-48+12355A>C
ENST00000560069.5:n.31+420A>C
ENST00000561183.5:c.-48+420A>C ENSP00000453722.1:n.-48+420A>C
NM_001142275.1:c.-48+420A>C NP_001135747.1:n.-48+420A>C
NM_144599.4:c.12A>C NP_653200.2:p.Ala4=
NM_144599.5:c.12A>C MANE Select NP_653200.2:p.Ala4=
Search 100 bp 5'
Search 100 bp 3'