Canonical Allele Identifier: CA361980123

Gene: NIPAL4 ADAM19

Linked Data

• MyVariant Identifiers: chr5:g.156890211A>T (hg19) ; chr5:g.157463203A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463203A>T , CM000667.2:g.157463203A>T	GRCh38
NC_000005.9:g.156890211A>T , CM000667.1:g.156890211A>T	GRCh37
NC_000005.8:g.156822789A>T	NCBI36
NG_016626.1:g.8185A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000311946.8:c.147A>T (NIPAL4) MANE Select	ENSP00000311687.8:p.Arg49Ser
ENST00000435489.7:c.147A>T (NIPAL4)	ENSP00000406456.3:p.Arg49Ser
ENST00000311946.7:c.333A>T (NIPAL4)	ENSP00000311687.7:p.Arg111Ser
ENST00000435489.6:c.333A>T (NIPAL4)	ENSP00000406456.2:p.Arg111Ser
ENST00000517951.5:c.*1741+25062T>A (ADAM19)	ENSP00000428376.1:n.*1741+25062T>A
ENST00000519150.1:c.245A>T (NIPAL4)	ENSP00000430810.1:p.Glu82Val
ENST00000519946.1:n.361A>T (NIPAL4)
ENST00000521390.5:n.252A>T (NIPAL4)
NM_001099287.1:c.333A>T (NIPAL4)	NP_001092757.1:p.Arg111Ser
NM_001172292.1:c.333A>T (NIPAL4)	NP_001165763.1:p.Arg111Ser
XM_011534552.1:c.-163A>T (NIPAL4)	XP_011532854.1:n.-163A>T
XM_024446043.1:c.-310A>T (NIPAL4)	XP_024301811.1:n.-310A>T
NM_001099287.2:c.147A>T (NIPAL4) MANE Select	NP_001092757.2:p.Arg49Ser