Canonical Allele Identifier: CA3534530

Gene: NIPAL4 ADAM19

Linked Data

• ClinVar Variation Id: 2377450
• ClinVar RCV Id: RCV002674053 ; RCV003561157
• dbSNP Id: rs200083422
• ExAC: 5:156890181 C / A
• gnomAD v2: 5-156890181-C-A
• gnomAD v3: 5-157463173-C-A
• gnomAD v4: 5-157463173-C-A
• MyVariant Identifiers: chr5:g.156890181C>A (hg19) ; chr5:g.157463173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463173C>A , CM000667.2:g.157463173C>A	GRCh38
NC_000005.9:g.156890181C>A , CM000667.1:g.156890181C>A	GRCh37
NC_000005.8:g.156822759C>A	NCBI36
NG_016626.1:g.8155C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.117C>A (NIPAL4) MANE Select	ENSP00000311687.8:p.Ser39Arg
ENST00000435489.7:c.117C>A (NIPAL4)	ENSP00000406456.3:p.Ser39Arg
ENST00000311946.7:c.303C>A (NIPAL4)	ENSP00000311687.7:p.Ser101Arg
ENST00000435489.6:c.303C>A (NIPAL4)	ENSP00000406456.2:p.Ser101Arg
ENST00000517951.5:c.*1741+25092G>T (ADAM19)	ENSP00000428376.1:n.*1741+25092G>T
ENST00000519150.1:c.215C>A (NIPAL4)	ENSP00000430810.1:p.Ala72Glu
ENST00000519946.1:n.331C>A (NIPAL4)
ENST00000521390.5:n.222C>A (NIPAL4)
NM_001099287.1:c.303C>A (NIPAL4)	NP_001092757.1:p.Ser101Arg
NM_001172292.1:c.303C>A (NIPAL4)	NP_001165763.1:p.Ser101Arg
XM_011534552.1:c.-193C>A (NIPAL4)	XP_011532854.1:n.-193C>A
XM_024446043.1:c.-340C>A (NIPAL4)	XP_024301811.1:n.-340C>A
NM_001099287.2:c.117C>A (NIPAL4) MANE Select	NP_001092757.2:p.Ser39Arg