Canonical Allele Identifier: CA361980212

Gene: NIPAL4 ADAM19

Linked Data

• MyVariant Identifiers: chr5:g.156890254T>G (hg19) ; chr5:g.157463246T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463246T>G , CM000667.2:g.157463246T>G	GRCh38
NC_000005.9:g.156890254T>G , CM000667.1:g.156890254T>G	GRCh37
NC_000005.8:g.156822832T>G	NCBI36
NG_016626.1:g.8228T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.190T>G (NIPAL4) MANE Select	ENSP00000311687.8:p.Phe64Val
ENST00000435489.7:c.190T>G (NIPAL4)	ENSP00000406456.3:p.Phe64Val
ENST00000311946.7:c.376T>G (NIPAL4)	ENSP00000311687.7:p.Phe126Val
ENST00000435489.6:c.376T>G (NIPAL4)	ENSP00000406456.2:p.Phe126Val
ENST00000517951.5:c.*1741+25019A>C (ADAM19)	ENSP00000428376.1:n.*1741+25019A>C
ENST00000519150.1:c.288T>G (NIPAL4)	ENSP00000430810.1:p.His96Gln
ENST00000519946.1:n.404T>G (NIPAL4)
ENST00000521390.5:n.295T>G (NIPAL4)
NM_001099287.1:c.376T>G (NIPAL4)	NP_001092757.1:p.Phe126Val
NM_001172292.1:c.376T>G (NIPAL4)	NP_001165763.1:p.Phe126Val
XM_011534552.1:c.-120T>G (NIPAL4)	XP_011532854.1:n.-120T>G
XM_024446043.1:c.-267T>G (NIPAL4)	XP_024301811.1:n.-267T>G
NM_001099287.2:c.190T>G (NIPAL4) MANE Select	NP_001092757.2:p.Phe64Val