Canonical Allele Identifier: CA7426135

Gene: NIPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22812251C>T , CM000677.2:g.22812251C>T	GRCh38
NC_000015.9:g.23060817G>A , CM000677.1:g.23060817G>A	GRCh37
NC_000015.8:g.20612258G>A	NCBI36
NG_009056.1:g.31027C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_144599.5:c.315C>T MANE Select	NP_653200.2:p.Phe105=
ENST00000337435.9:c.315C>T MANE Select	ENSP00000337452.4:p.Phe105=
NM_001142275.1:c.90C>T	NP_001135747.1:p.Phe30=
NM_144599.4:c.315C>T	NP_653200.2:p.Phe105=
ENST00000337435.8:c.315C>T	ENSP00000337452.4:p.Phe105=
ENST00000437912.6:c.90C>T	ENSP00000393962.2:p.Phe30=
ENST00000557930.1:c.159C>T	ENSP00000453797.1:p.Phe53=
ENST00000559448.5:c.205C>T
ENST00000560069.5:n.168C>T
ENST00000561183.5:c.90C>T	ENSP00000453722.1:p.Phe30=