Canonical Allele Identifier: CA361980052

Gene: NIPAL4 ADAM19

Linked Data

• dbSNP Id: rs763067810
• gnomAD v4: 5-157463181-C-T
• MyVariant Identifiers: chr5:g.156890189C>T (hg19) ; chr5:g.157463181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463181C>T , CM000667.2:g.157463181C>T	GRCh38
NC_000005.9:g.156890189C>T , CM000667.1:g.156890189C>T	GRCh37
NC_000005.8:g.156822767C>T	NCBI36
NG_016626.1:g.8163C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.125C>T (NIPAL4) MANE Select	ENSP00000311687.8:p.Thr42Ile
ENST00000435489.7:c.125C>T (NIPAL4)	ENSP00000406456.3:p.Thr42Ile
ENST00000311946.7:c.311C>T (NIPAL4)	ENSP00000311687.7:p.Thr104Ile
ENST00000435489.6:c.311C>T (NIPAL4)	ENSP00000406456.2:p.Thr104Ile
ENST00000517951.5:c.*1741+25084G>A (ADAM19)	ENSP00000428376.1:n.*1741+25084G>A
ENST00000519150.1:c.223C>T (NIPAL4)	ENSP00000430810.1:p.Pro75Ser
ENST00000519946.1:n.339C>T (NIPAL4)
ENST00000521390.5:n.230C>T (NIPAL4)
NM_001099287.1:c.311C>T (NIPAL4)	NP_001092757.1:p.Thr104Ile
NM_001172292.1:c.311C>T (NIPAL4)	NP_001165763.1:p.Thr104Ile
XM_011534552.1:c.-185C>T (NIPAL4)	XP_011532854.1:n.-185C>T
XM_024446043.1:c.-332C>T (NIPAL4)	XP_024301811.1:n.-332C>T
NM_001099287.2:c.125C>T (NIPAL4) MANE Select	NP_001092757.2:p.Thr42Ile