Canonical Allele Identifier: CA391298268
Gene: NIPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2104456
ClinVar RCV Id: RCV003014701
gnomAD v4: 15-22786688-C-G
MyVariant Identifiers: chr15:g.23086380G>C (hg19) chr15:g.22786688C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786688C>G , CM000677.2:g.22786688C>G GRCh38
NC_000015.9:g.23086380G>C , CM000677.1:g.23086380G>C GRCh37
NC_000015.8:g.20637821G>C NCBI36
NG_009056.1:g.5464C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.32C>G MANE Select ENSP00000337452.4:p.Ala11Gly
ENST00000337435.8:c.32C>G ENSP00000337452.4:p.Ala11Gly
ENST00000437912.6:c.-48+12375C>G ENSP00000393962.2:n.-48+12375C>G
ENST00000560069.5:n.31+440C>G
ENST00000561183.5:c.-48+440C>G ENSP00000453722.1:n.-48+440C>G
NM_001142275.1:c.-48+440C>G NP_001135747.1:n.-48+440C>G
NM_144599.4:c.32C>G NP_653200.2:p.Ala11Gly
NM_144599.5:c.32C>G MANE Select NP_653200.2:p.Ala11Gly
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