Canonical Allele Identifier: CA251939

Gene: NIPAL4 ADAM19

Linked Data

• ClinVar Variation Id: 1731
• ClinVar RCV Id: RCV000001801 ; RCV000254897 ; RCV001729333 ; RCV001844003
• dbSNP Id: rs199422217
• ExAC: 5:156895736 C / A
• gnomAD v2: 5-156895736-C-A
• gnomAD v3: 5-157468728-C-A
• gnomAD v4: 5-157468728-C-A
• MyVariant Identifiers: chr5:g.156895736C>A (hg19) ; chr5:g.157468728C>A (hg38)
• PubMed: PMID:15317751 ; PMID:17557927 ; PMID:20016120 ; PMID:20301593 ; PMID:22622417 ; PMID:23891399 ; PMID:24397709 ; PMID:25458912 ; PMID:26762237

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157468728C>A , CM000667.2:g.157468728C>A	GRCh38
NC_000005.9:g.156895736C>A , CM000667.1:g.156895736C>A	GRCh37
NC_000005.8:g.156828314C>A	NCBI36
NG_016626.1:g.13710C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.341C>A (NIPAL4) MANE Select	ENSP00000311687.8:p.Ala114Asp
ENST00000435489.7:c.284C>A (NIPAL4)	ENSP00000406456.3:p.Ala95Asp
ENST00000311946.7:c.527C>A (NIPAL4)	ENSP00000311687.7:p.Ala176Asp
ENST00000435489.6:c.470C>A (NIPAL4)	ENSP00000406456.2:p.Ala157Asp
ENST00000517951.5:c.*1741+19537G>T (ADAM19)	ENSP00000428376.1:n.*1741+19537G>T
ENST00000519150.1:c.439C>A (NIPAL4)	ENSP00000430810.1:n.439C>A
ENST00000519946.1:n.555C>A (NIPAL4)
NM_001099287.1:c.527C>A (NIPAL4)	NP_001092757.1:p.Ala176Asp
NM_001172292.1:c.470C>A (NIPAL4)	NP_001165763.1:p.Ala157Asp
XM_011534552.1:c.32C>A (NIPAL4)	XP_011532854.1:p.Ala11Asp
XM_024446043.1:c.-173C>A (NIPAL4)	XP_024301811.1:n.-173C>A
NM_001099287.2:c.341C>A (NIPAL4) MANE Select	NP_001092757.2:p.Ala114Asp