Canonical Allele Identifier: CA10623967

Gene: NIPAL4 ADAM19

Linked Data

• ClinVar Variation Id: 352507
• ClinVar RCV Id: RCV000292432
• dbSNP Id: rs886060337
• MyVariant Identifiers: chr5:g.156890209A>C (hg19) ; chr5:g.157463201A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463201A>C , CM000667.2:g.157463201A>C	GRCh38
NC_000005.9:g.156890209A>C , CM000667.1:g.156890209A>C	GRCh37
NC_000005.8:g.156822787A>C	NCBI36
NG_016626.1:g.8183A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.145A>C (NIPAL4) MANE Select	ENSP00000311687.8:p.Arg49=
ENST00000435489.7:c.145A>C (NIPAL4)	ENSP00000406456.3:p.Arg49=
ENST00000311946.7:c.331A>C (NIPAL4)	ENSP00000311687.7:p.Arg111=
ENST00000435489.6:c.331A>C (NIPAL4)	ENSP00000406456.2:p.Arg111=
ENST00000517951.5:c.*1741+25064T>G (ADAM19)	ENSP00000428376.1:n.*1741+25064T>G
ENST00000519150.1:c.243A>C (NIPAL4)	ENSP00000430810.1:p.Lys81Asn
ENST00000519946.1:n.359A>C (NIPAL4)
ENST00000521390.5:n.250A>C (NIPAL4)
NM_001099287.1:c.331A>C (NIPAL4)	NP_001092757.1:p.Arg111=
NM_001172292.1:c.331A>C (NIPAL4)	NP_001165763.1:p.Arg111=
XM_011534552.1:c.-165A>C (NIPAL4)	XP_011532854.1:n.-165A>C
XM_024446043.1:c.-312A>C (NIPAL4)	XP_024301811.1:n.-312A>C
NM_001099287.2:c.145A>C (NIPAL4) MANE Select	NP_001092757.2:p.Arg49=