Canonical Allele Identifier: CA3534666

Gene: NIPAL4 ADAM19

Linked Data

• ClinVar Variation Id: 372383
• ClinVar RCV Id: RCV000414650 ; RCV000791228 ; RCV001729571 ; RCV001797712
• dbSNP Id: rs370356566
• ExAC: 5:156898741 G / A
• gnomAD v2: 5-156898741-G-A
• gnomAD v3: 5-157471733-G-A
• gnomAD v4: 5-157471733-G-A
• MyVariant Identifiers: chr5:g.156898741G>A (hg19) ; chr5:g.157471733G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157471733G>A , CM000667.2:g.157471733G>A	GRCh38
NC_000005.9:g.156898741G>A , CM000667.1:g.156898741G>A	GRCh37
NC_000005.8:g.156831319G>A	NCBI36
NG_016626.1:g.16715G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.502G>A (NIPAL4) MANE Select	ENSP00000311687.8:p.Gly168Arg
ENST00000435489.7:c.445G>A (NIPAL4)	ENSP00000406456.3:p.Gly149Arg
ENST00000311946.7:c.688G>A (NIPAL4)	ENSP00000311687.7:p.Gly230Arg
ENST00000435489.6:c.631G>A (NIPAL4)	ENSP00000406456.2:p.Gly211Arg
ENST00000517951.5:c.*1741+16532C>T (ADAM19)	ENSP00000428376.1:n.*1741+16532C>T
ENST00000519150.1:c.600G>A (NIPAL4)	ENSP00000430810.1:n.600G>A
NM_001099287.1:c.688G>A (NIPAL4)	NP_001092757.1:p.Gly230Arg
NM_001172292.1:c.631G>A (NIPAL4)	NP_001165763.1:p.Gly211Arg
XM_011534552.1:c.193G>A (NIPAL4)	XP_011532854.1:p.Gly65Arg
XM_024446043.1:c.-12G>A (NIPAL4)	XP_024301811.1:n.-12G>A
NM_001099287.2:c.502G>A (NIPAL4) MANE Select	NP_001092757.2:p.Gly168Arg