Canonical Allele Identifier: CA361972473

Gene: NIPAL4 ADAM19

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157471685G>T , CM000667.2:g.157471685G>T	GRCh38
NC_000005.9:g.156898693G>T , CM000667.1:g.156898693G>T	GRCh37
NC_000005.8:g.156831271G>T	NCBI36
NG_016626.1:g.16667G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.454G>T (NIPAL4) MANE Select	ENSP00000311687.8:p.Glu152Ter
ENST00000435489.7:c.397G>T (NIPAL4)	ENSP00000406456.3:p.Glu133Ter
ENST00000311946.7:c.640G>T (NIPAL4)	ENSP00000311687.7:p.Glu214Ter
ENST00000435489.6:c.583G>T (NIPAL4)	ENSP00000406456.2:p.Glu195Ter
ENST00000517951.5:c.*1741+16580C>A (ADAM19)	ENSP00000428376.1:n.*1741+16580C>A
ENST00000519150.1:c.552G>T (NIPAL4)	ENSP00000430810.1:n.552G>T
NM_001099287.1:c.640G>T (NIPAL4)	NP_001092757.1:p.Glu214Ter
NM_001172292.1:c.583G>T (NIPAL4)	NP_001165763.1:p.Glu195Ter
XM_011534552.1:c.145G>T (NIPAL4)	XP_011532854.1:p.Glu49Ter
XM_024446043.1:c.-60G>T (NIPAL4)	XP_024301811.1:n.-60G>T
NM_001099287.2:c.454G>T (NIPAL4) MANE Select	NP_001092757.2:p.Glu152Ter