Canonical Allele Identifier: CA616624880
Gene: NIPA1 HGNC NCBI

Linked Data

dbSNP Id: rs1259715652
gnomAD v2: 15-23047763-T-C
gnomAD v3: 15-22825305-A-G
gnomAD v4: 15-22825305-A-G
MyVariant Identifiers: chr15:g.23047763T>C (hg19) chr15:g.22825305A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22825305A>G , CM000677.2:g.22825305A>G GRCh38
NC_000015.9:g.23047763T>C , CM000677.1:g.23047763T>C GRCh37
NC_000015.8:g.20599204T>C NCBI36
NG_009056.1:g.44081A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.*1066A>G MANE Select ENSP00000337452.4:n.*1066A>G
ENST00000337435.8:c.*1066A>G ENSP00000337452.4:n.*1066A>G
ENST00000437912.6:c.*1066A>G ENSP00000393962.2:n.*1066A>G
ENST00000559448.5:c.2028A>G
NM_001142275.1:c.*1066A>G NP_001135747.1:n.*1066A>G
NM_144599.4:c.*1066A>G NP_653200.2:n.*1066A>G
NM_144599.5:c.*1066A>G MANE Select NP_653200.2:n.*1066A>G
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