Canonical Allele Identifier: CA361972479

Gene: NIPAL4 ADAM19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157471688A>T , CM000667.2:g.157471688A>T	GRCh38
NC_000005.9:g.156898696A>T , CM000667.1:g.156898696A>T	GRCh37
NC_000005.8:g.156831274A>T	NCBI36
NG_016626.1:g.16670A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001099287.2:c.457A>T (NIPAL4) MANE Select	NP_001092757.2:p.Ser153Cys
ENST00000311946.8:c.457A>T (NIPAL4) MANE Select	ENSP00000311687.8:p.Ser153Cys
NM_001099287.1:c.643A>T (NIPAL4)	NP_001092757.1:p.Ser215Cys
NM_001172292.1:c.586A>T (NIPAL4)	NP_001165763.1:p.Ser196Cys
ENST00000311946.7:c.643A>T (NIPAL4)	ENSP00000311687.7:p.Ser215Cys
ENST00000435489.6:c.586A>T (NIPAL4)	ENSP00000406456.2:p.Ser196Cys
ENST00000435489.7:c.400A>T (NIPAL4)	ENSP00000406456.3:p.Ser134Cys
ENST00000517951.5:c.*1741+16577T>A (ADAM19)	ENSP00000428376.1:n.*1741+16577T>A
ENST00000519150.1:c.555A>T (NIPAL4)	ENSP00000430810.1:n.555A>T
XM_011534552.1:c.148A>T (NIPAL4)	XP_011532854.1:p.Ser50Cys
XM_024446043.1:c.-57A>T (NIPAL4)	XP_024301811.1:n.-57A>T