Canonical Allele Identifier: CA267607721
Gene: NIPA1 HGNC NCBI

Linked Data

dbSNP Id: rs376812676
gnomAD v2: 15-23047753-G-A
gnomAD v3: 15-22825315-C-T
gnomAD v4: 15-22825315-C-T
MyVariant Identifiers: chr15:g.23047753G>A (hg19) chr15:g.22825315C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22825315C>T , CM000677.2:g.22825315C>T GRCh38
NC_000015.9:g.23047753G>A , CM000677.1:g.23047753G>A GRCh37
NC_000015.8:g.20599194G>A NCBI36
NG_009056.1:g.44091C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.*1076C>T MANE Select ENSP00000337452.4:n.*1076C>T
ENST00000337435.8:c.*1076C>T ENSP00000337452.4:n.*1076C>T
ENST00000437912.6:c.*1076C>T ENSP00000393962.2:n.*1076C>T
ENST00000559448.5:c.2038C>T
NM_001142275.1:c.*1076C>T NP_001135747.1:n.*1076C>T
NM_144599.4:c.*1076C>T NP_653200.2:n.*1076C>T
NM_144599.5:c.*1076C>T MANE Select NP_653200.2:n.*1076C>T
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