Canonical Allele Identifier: CA3534522

Gene: NIPAL4 ADAM19

Linked Data

• ClinVar Variation Id: 776087
• ClinVar RCV Id: RCV000956336
• dbSNP Id: rs138368479
• ExAC: 5:156890156 A / G
• gnomAD v2: 5-156890156-A-G
• gnomAD v3: 5-157463148-A-G
• gnomAD v4: 5-157463148-A-G
• MyVariant Identifiers: chr5:g.156890156A>G (hg19) ; chr5:g.157463148A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463148A>G , CM000667.2:g.157463148A>G	GRCh38
NC_000005.9:g.156890156A>G , CM000667.1:g.156890156A>G	GRCh37
NC_000005.8:g.156822734A>G	NCBI36
NG_016626.1:g.8130A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.92A>G (NIPAL4) MANE Select	ENSP00000311687.8:p.Asn31Ser
ENST00000435489.7:c.92A>G (NIPAL4)	ENSP00000406456.3:p.Asn31Ser
ENST00000311946.7:c.278A>G (NIPAL4)	ENSP00000311687.7:p.Asn93Ser
ENST00000435489.6:c.278A>G (NIPAL4)	ENSP00000406456.2:p.Asn93Ser
ENST00000517951.5:c.*1741+25117T>C (ADAM19)	ENSP00000428376.1:n.*1741+25117T>C
ENST00000519150.1:c.190A>G (NIPAL4)	ENSP00000430810.1:p.Met64Val
ENST00000519946.1:n.306A>G (NIPAL4)
ENST00000521390.5:n.197A>G (NIPAL4)
NM_001099287.1:c.278A>G (NIPAL4)	NP_001092757.1:p.Asn93Ser
NM_001172292.1:c.278A>G (NIPAL4)	NP_001165763.1:p.Asn93Ser
XM_011534552.1:c.-218A>G (NIPAL4)	XP_011532854.1:n.-218A>G
XM_024446043.1:c.-365A>G (NIPAL4)	XP_024301811.1:n.-365A>G
NM_001099287.2:c.92A>G (NIPAL4) MANE Select	NP_001092757.2:p.Asn31Ser