Canonical Allele Identifier: CA361979815

Gene: NIPAL4 ADAM19

Linked Data

• dbSNP Id: rs751897431
• gnomAD v3: 5-157463108-C-A
• gnomAD v4: 5-157463108-C-A
• MyVariant Identifiers: chr5:g.156890116C>A (hg19) ; chr5:g.157463108C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463108C>A , CM000667.2:g.157463108C>A	GRCh38
NC_000005.9:g.156890116C>A , CM000667.1:g.156890116C>A	GRCh37
NC_000005.8:g.156822694C>A	NCBI36
NG_016626.1:g.8090C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.52C>A (NIPAL4) MANE Select	ENSP00000311687.8:p.Leu18Ile
ENST00000435489.7:c.52C>A (NIPAL4)	ENSP00000406456.3:p.Leu18Ile
ENST00000311946.7:c.238C>A (NIPAL4)	ENSP00000311687.7:p.Leu80Ile
ENST00000435489.6:c.238C>A (NIPAL4)	ENSP00000406456.2:p.Leu80Ile
ENST00000517951.5:c.*1741+25157G>T (ADAM19)	ENSP00000428376.1:n.*1741+25157G>T
ENST00000519150.1:c.150C>A (NIPAL4)	ENSP00000430810.1:p.Thr50=
ENST00000519946.1:n.266C>A (NIPAL4)
ENST00000521390.5:n.157C>A (NIPAL4)
NM_001099287.1:c.238C>A (NIPAL4)	NP_001092757.1:p.Leu80Ile
NM_001172292.1:c.238C>A (NIPAL4)	NP_001165763.1:p.Leu80Ile
XM_011534552.1:c.-258C>A (NIPAL4)	XP_011532854.1:n.-258C>A
XM_024446043.1:c.-405C>A (NIPAL4)	XP_024301811.1:n.-405C>A
NM_001099287.2:c.52C>A (NIPAL4) MANE Select	NP_001092757.2:p.Leu18Ile