Canonical Allele Identifier: CA2163910672

Gene: NIPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786785G= , CM000677.2:g.22786785G=	GRCh38
NC_000015.9:g.23086283C= , CM000677.1:g.23086283C=	GRCh37
NC_000015.8:g.20637724C=	NCBI36
NG_009056.1:g.5561G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.129G= MANE Select	ENSP00000337452.4:p.Gly43=
ENST00000337435.8:c.129G=	ENSP00000337452.4:p.Gly43=
ENST00000437912.6:c.-48+12472G=	ENSP00000393962.2:n.-48+12472G=
ENST00000559448.5:c.19G=
ENST00000560069.5:n.31+537G=
ENST00000560105.1:n.28G=
ENST00000561183.5:c.-48+537G=	ENSP00000453722.1:n.-48+537G=
NM_001142275.1:c.-48+537G=	NP_001135747.1:n.-48+537G=
NM_144599.4:c.129G=	NP_653200.2:p.Gly43=
NM_144599.5:c.129G= MANE Select	NP_653200.2:p.Gly43=