Canonical Allele Identifier: CA361972807

Gene: NIPAL4 ADAM19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157471800C>A , CM000667.2:g.157471800C>A	GRCh38
NC_000005.9:g.156898808C>A , CM000667.1:g.156898808C>A	GRCh37
NC_000005.8:g.156831386C>A	NCBI36
NG_016626.1:g.16782C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.569C>A (NIPAL4) MANE Select	ENSP00000311687.8:p.Ser190Tyr
ENST00000435489.7:c.512C>A (NIPAL4)	ENSP00000406456.3:p.Ser171Tyr
ENST00000311946.7:c.755C>A (NIPAL4)	ENSP00000311687.7:p.Ser252Tyr
ENST00000435489.6:c.698C>A (NIPAL4)	ENSP00000406456.2:p.Ser233Tyr
ENST00000517951.5:c.*1741+16465G>T (ADAM19)	ENSP00000428376.1:n.*1741+16465G>T
ENST00000519150.1:c.667C>A (NIPAL4)	ENSP00000430810.1:n.667C>A
NM_001099287.1:c.755C>A (NIPAL4)	NP_001092757.1:p.Ser252Tyr
NM_001172292.1:c.698C>A (NIPAL4)	NP_001165763.1:p.Ser233Tyr
XM_011534552.1:c.260C>A (NIPAL4)	XP_011532854.1:p.Ser87Tyr
XM_024446043.1:c.56C>A (NIPAL4)	XP_024301811.1:p.Ser19Tyr
NM_001099287.2:c.569C>A (NIPAL4) MANE Select	NP_001092757.2:p.Ser190Tyr