Canonical Allele Identifier: CA361979289

Gene: NIPAL4 ADAM19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157460324G>T , CM000667.2:g.157460324G>T	GRCh38
NC_000005.9:g.156887332G>T , CM000667.1:g.156887332G>T	GRCh37
NC_000005.8:g.156819910G>T	NCBI36
NG_016626.1:g.5306G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001099287.2:c.4G>T (NIPAL4) MANE Select	NP_001092757.2:p.Glu2Ter
ENST00000311946.8:c.4G>T (NIPAL4) MANE Select	ENSP00000311687.8:p.Glu2Ter
NM_001099287.1:c.190G>T (NIPAL4)	NP_001092757.1:p.Glu64Ter
NM_001172292.1:c.190G>T (NIPAL4)	NP_001165763.1:p.Glu64Ter
ENST00000311946.7:c.190G>T (NIPAL4)	ENSP00000311687.7:p.Glu64Ter
ENST00000435489.6:c.190G>T (NIPAL4)	ENSP00000406456.2:p.Glu64Ter
ENST00000435489.7:c.4G>T (NIPAL4)	ENSP00000406456.3:p.Glu2Ter
ENST00000517951.5:c.*1741+27941C>A (ADAM19)	ENSP00000428376.1:n.*1741+27941C>A
ENST00000519150.1:c.70G>T (NIPAL4)	ENSP00000430810.1:p.Glu24Ter
ENST00000521390.5:n.109G>T (NIPAL4)