Canonical Allele Identifier: CA391298549
Gene: NIPA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786739T>A , CM000677.2:g.22786739T>A GRCh38
NC_000015.9:g.23086329A>T , CM000677.1:g.23086329A>T GRCh37
NC_000015.8:g.20637770A>T NCBI36
NG_009056.1:g.5515T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.83T>A MANE Select ENSP00000337452.4:p.Val28Glu
ENST00000337435.8:c.83T>A ENSP00000337452.4:p.Val28Glu
ENST00000437912.6:c.-48+12426T>A ENSP00000393962.2:n.-48+12426T>A
ENST00000560069.5:n.31+491T>A
ENST00000561183.5:c.-48+491T>A ENSP00000453722.1:n.-48+491T>A
NM_001142275.1:c.-48+491T>A NP_001135747.1:n.-48+491T>A
NM_144599.4:c.83T>A NP_653200.2:p.Val28Glu
NM_144599.5:c.83T>A MANE Select NP_653200.2:p.Val28Glu