Canonical Allele Identifier: CA3534570

Gene: NIPAL4 ADAM19

Linked Data

• ClinVar Variation Id: 638538
• ClinVar RCV Id: RCV000791221 ; RCV003387930
• dbSNP Id: rs376074083
• ExAC: 5:156890346 G / A
• gnomAD v2: 5-156890346-G-A
• gnomAD v3: 5-157463338-G-A
• gnomAD v4: 5-157463338-G-A
• MyVariant Identifiers: chr5:g.156890346G>A (hg19) ; chr5:g.157463338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463338G>A , CM000667.2:g.157463338G>A	GRCh38
NC_000005.9:g.156890346G>A , CM000667.1:g.156890346G>A	GRCh37
NC_000005.8:g.156822924G>A	NCBI36
NG_016626.1:g.8320G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.277+5G>A (NIPAL4) MANE Select	ENSP00000311687.8:n.277+5G>A
ENST00000435489.7:c.277+5G>A (NIPAL4)	ENSP00000406456.3:n.277+5G>A
ENST00000311946.7:c.463+5G>A (NIPAL4)	ENSP00000311687.7:n.463+5G>A
ENST00000435489.6:c.463+5G>A (NIPAL4)	ENSP00000406456.2:n.463+5G>A
ENST00000517951.5:c.*1741+24927C>T (ADAM19)	ENSP00000428376.1:n.*1741+24927C>T
ENST00000519150.1:c.375+5G>A (NIPAL4)	ENSP00000430810.1:n.375+5G>A
ENST00000519946.1:n.491+5G>A (NIPAL4)
ENST00000521390.5:n.382+5G>A (NIPAL4)
NM_001099287.1:c.463+5G>A (NIPAL4)	NP_001092757.1:n.463+5G>A
NM_001172292.1:c.463+5G>A (NIPAL4)	NP_001165763.1:n.463+5G>A
XM_011534552.1:c.-33+5G>A (NIPAL4)	XP_011532854.1:n.-33+5G>A
XM_024446043.1:c.-180+5G>A (NIPAL4)	XP_024301811.1:n.-180+5G>A
NM_001099287.2:c.277+5G>A (NIPAL4) MANE Select	NP_001092757.2:n.277+5G>A