Canonical Allele Identifier: CA447431399

Gene: NIPAL4 ADAM19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157471783C>T , CM000667.2:g.157471783C>T	GRCh38
NC_000005.9:g.156898791C>T , CM000667.1:g.156898791C>T	GRCh37
NC_000005.8:g.156831369C>T	NCBI36
NG_016626.1:g.16765C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001099287.2:c.552C>T (NIPAL4) MANE Select	NP_001092757.2:p.Thr184=
ENST00000311946.8:c.552C>T (NIPAL4) MANE Select	ENSP00000311687.8:p.Thr184=
NM_001099287.1:c.738C>T (NIPAL4)	NP_001092757.1:p.Thr246=
NM_001172292.1:c.681C>T (NIPAL4)	NP_001165763.1:p.Thr227=
ENST00000311946.7:c.738C>T (NIPAL4)	ENSP00000311687.7:p.Thr246=
ENST00000435489.6:c.681C>T (NIPAL4)	ENSP00000406456.2:p.Thr227=
ENST00000435489.7:c.495C>T (NIPAL4)	ENSP00000406456.3:p.Thr165=
ENST00000517951.5:c.*1741+16482G>A (ADAM19)	ENSP00000428376.1:n.*1741+16482G>A
ENST00000519150.1:c.650C>T (NIPAL4)	ENSP00000430810.1:n.650C>T
XM_011534552.1:c.243C>T (NIPAL4)	XP_011532854.1:p.Thr81=
XM_024446043.1:c.39C>T (NIPAL4)	XP_024301811.1:p.Thr13=