Canonical Allele Identifier: CA267607730
Gene: NIPA1 HGNC NCBI

Linked Data

dbSNP Id: rs963733011
gnomAD v2: 15-23047752-C-T
gnomAD v3: 15-22825316-G-A
gnomAD v4: 15-22825316-G-A
MyVariant Identifiers: chr15:g.23047752C>T (hg19) chr15:g.22825316G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22825316G>A , CM000677.2:g.22825316G>A GRCh38
NC_000015.9:g.23047752C>T , CM000677.1:g.23047752C>T GRCh37
NC_000015.8:g.20599193C>T NCBI36
NG_009056.1:g.44092G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.*1077G>A MANE Select ENSP00000337452.4:n.*1077G>A
ENST00000337435.8:c.*1077G>A ENSP00000337452.4:n.*1077G>A
ENST00000437912.6:c.*1077G>A ENSP00000393962.2:n.*1077G>A
ENST00000559448.5:c.2039G>A
NM_001142275.1:c.*1077G>A NP_001135747.1:n.*1077G>A
NM_144599.4:c.*1077G>A NP_653200.2:n.*1077G>A
NM_144599.5:c.*1077G>A MANE Select NP_653200.2:n.*1077G>A
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