Canonical Allele Identifier: CA2676215145

Gene: NIPAL4 ADAM19

Linked Data

• gnomAD v4: 5-157463378-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463378C>T , CM000667.2:g.157463378C>T	GRCh38
NC_000005.9:g.156890386C>T , CM000667.1:g.156890386C>T	GRCh37
NC_000005.8:g.156822964C>T	NCBI36
NG_016626.1:g.8360C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.277+45C>T (NIPAL4) MANE Select	ENSP00000311687.8:n.277+45C>T
ENST00000435489.7:c.277+45C>T (NIPAL4)	ENSP00000406456.3:n.277+45C>T
ENST00000311946.7:c.463+45C>T (NIPAL4)	ENSP00000311687.7:n.463+45C>T
ENST00000435489.6:c.463+45C>T (NIPAL4)	ENSP00000406456.2:n.463+45C>T
ENST00000517951.5:c.*1741+24887G>A (ADAM19)	ENSP00000428376.1:n.*1741+24887G>A
ENST00000519150.1:c.375+45C>T (NIPAL4)	ENSP00000430810.1:n.375+45C>T
ENST00000519946.1:n.491+45C>T (NIPAL4)
ENST00000521390.5:n.382+45C>T (NIPAL4)
NM_001099287.1:c.463+45C>T (NIPAL4)	NP_001092757.1:n.463+45C>T
NM_001172292.1:c.463+45C>T (NIPAL4)	NP_001165763.1:n.463+45C>T
XM_011534552.1:c.-33+45C>T (NIPAL4)	XP_011532854.1:n.-33+45C>T
XM_024446043.1:c.-180+45C>T (NIPAL4)	XP_024301811.1:n.-180+45C>T
NM_001099287.2:c.277+45C>T (NIPAL4) MANE Select	NP_001092757.2:n.277+45C>T