Canonical Allele Identifier: CA391298394
Gene: NIPA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786711G>C , CM000677.2:g.22786711G>C GRCh38
NC_000015.9:g.23086357C>G , CM000677.1:g.23086357C>G GRCh37
NC_000015.8:g.20637798C>G NCBI36
NG_009056.1:g.5487G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.55G>C MANE Select ENSP00000337452.4:p.Gly19Arg
ENST00000337435.8:c.55G>C ENSP00000337452.4:p.Gly19Arg
ENST00000437912.6:c.-48+12398G>C ENSP00000393962.2:n.-48+12398G>C
ENST00000560069.5:n.31+463G>C
ENST00000561183.5:c.-48+463G>C ENSP00000453722.1:n.-48+463G>C
NM_001142275.1:c.-48+463G>C NP_001135747.1:n.-48+463G>C
NM_144599.4:c.55G>C NP_653200.2:p.Gly19Arg
NM_144599.5:c.55G>C MANE Select NP_653200.2:p.Gly19Arg