Canonical Allele Identifier: CA2627251417
Gene: NIPA1 HGNC NCBI

Linked Data

gnomAD v4: 15-22825312-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22825312C>T , CM000677.2:g.22825312C>T GRCh38
NC_000015.9:g.23047756G>A , CM000677.1:g.23047756G>A GRCh37
NC_000015.8:g.20599197G>A NCBI36
NG_009056.1:g.44088C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.*1073C>T MANE Select ENSP00000337452.4:n.*1073C>T
ENST00000337435.8:c.*1073C>T ENSP00000337452.4:n.*1073C>T
ENST00000437912.6:c.*1073C>T ENSP00000393962.2:n.*1073C>T
ENST00000559448.5:c.2035C>T
NM_001142275.1:c.*1073C>T NP_001135747.1:n.*1073C>T
NM_144599.4:c.*1073C>T NP_653200.2:n.*1073C>T
NM_144599.5:c.*1073C>T MANE Select NP_653200.2:n.*1073C>T
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