Canonical Allele Identifier: CA447431418

Gene: NIPAL4 ADAM19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157471792G>A , CM000667.2:g.157471792G>A	GRCh38
NC_000005.9:g.156898800G>A , CM000667.1:g.156898800G>A	GRCh37
NC_000005.8:g.156831378G>A	NCBI36
NG_016626.1:g.16774G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.561G>A (NIPAL4) MANE Select	ENSP00000311687.8:p.Glu187=
ENST00000435489.7:c.504G>A (NIPAL4)	ENSP00000406456.3:p.Glu168=
ENST00000311946.7:c.747G>A (NIPAL4)	ENSP00000311687.7:p.Glu249=
ENST00000435489.6:c.690G>A (NIPAL4)	ENSP00000406456.2:p.Glu230=
ENST00000517951.5:c.*1741+16473C>T (ADAM19)	ENSP00000428376.1:n.*1741+16473C>T
ENST00000519150.1:c.659G>A (NIPAL4)	ENSP00000430810.1:n.659G>A
NM_001099287.1:c.747G>A (NIPAL4)	NP_001092757.1:p.Glu249=
NM_001172292.1:c.690G>A (NIPAL4)	NP_001165763.1:p.Glu230=
XM_011534552.1:c.252G>A (NIPAL4)	XP_011532854.1:p.Glu84=
XM_024446043.1:c.48G>A (NIPAL4)	XP_024301811.1:p.Glu16=
NM_001099287.2:c.561G>A (NIPAL4) MANE Select	NP_001092757.2:p.Glu187=