Canonical Allele Identifier: CA711201933
Gene: NIPA1 HGNC NCBI

Linked Data

dbSNP Id: rs1184093376
MyVariant Identifiers: chr15:g.23047749T>C (hg19) chr15:g.22825319A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22825319A>G , CM000677.2:g.22825319A>G GRCh38
NC_000015.9:g.23047749T>C , CM000677.1:g.23047749T>C GRCh37
NC_000015.8:g.20599190T>C NCBI36
NG_009056.1:g.44095A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.*1080A>G MANE Select ENSP00000337452.4:n.*1080A>G
ENST00000337435.8:c.*1080A>G ENSP00000337452.4:n.*1080A>G
ENST00000437912.6:c.*1080A>G ENSP00000393962.2:n.*1080A>G
ENST00000559448.5:c.2042A>G
NM_001142275.1:c.*1080A>G NP_001135747.1:n.*1080A>G
NM_144599.4:c.*1080A>G NP_653200.2:n.*1080A>G
NM_144599.5:c.*1080A>G MANE Select NP_653200.2:n.*1080A>G
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