Canonical Allele Identifier: CA361972785

Gene: NIPAL4 ADAM19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157471791A>G , CM000667.2:g.157471791A>G	GRCh38
NC_000005.9:g.156898799A>G , CM000667.1:g.156898799A>G	GRCh37
NC_000005.8:g.156831377A>G	NCBI36
NG_016626.1:g.16773A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.560A>G (NIPAL4) MANE Select	ENSP00000311687.8:p.Glu187Gly
ENST00000435489.7:c.503A>G (NIPAL4)	ENSP00000406456.3:p.Glu168Gly
ENST00000311946.7:c.746A>G (NIPAL4)	ENSP00000311687.7:p.Glu249Gly
ENST00000435489.6:c.689A>G (NIPAL4)	ENSP00000406456.2:p.Glu230Gly
ENST00000517951.5:c.*1741+16474T>C (ADAM19)	ENSP00000428376.1:n.*1741+16474T>C
ENST00000519150.1:c.658A>G (NIPAL4)	ENSP00000430810.1:n.658A>G
NM_001099287.1:c.746A>G (NIPAL4)	NP_001092757.1:p.Glu249Gly
NM_001172292.1:c.689A>G (NIPAL4)	NP_001165763.1:p.Glu230Gly
XM_011534552.1:c.251A>G (NIPAL4)	XP_011532854.1:p.Glu84Gly
XM_024446043.1:c.47A>G (NIPAL4)	XP_024301811.1:p.Glu16Gly
NM_001099287.2:c.560A>G (NIPAL4) MANE Select	NP_001092757.2:p.Glu187Gly