Canonical Allele Identifier: CA3534547

Gene: NIPAL4 ADAM19

Linked Data

• ClinVar Variation Id: 352508
• ClinVar RCV Id: RCV000347422 ; RCV002061271
• dbSNP Id: rs374829524
• ExAC: 5:156890257 C / T
• gnomAD v2: 5-156890257-C-T
• gnomAD v3: 5-157463249-C-T
• gnomAD v4: 5-157463249-C-T
• MyVariant Identifiers: chr5:g.156890257C>T (hg19) ; chr5:g.157463249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463249C>T , CM000667.2:g.157463249C>T	GRCh38
NC_000005.9:g.156890257C>T , CM000667.1:g.156890257C>T	GRCh37
NC_000005.8:g.156822835C>T	NCBI36
NG_016626.1:g.8231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.193C>T (NIPAL4) MANE Select	ENSP00000311687.8:p.Leu65=
ENST00000435489.7:c.193C>T (NIPAL4)	ENSP00000406456.3:p.Leu65=
ENST00000311946.7:c.379C>T (NIPAL4)	ENSP00000311687.7:p.Leu127=
ENST00000435489.6:c.379C>T (NIPAL4)	ENSP00000406456.2:p.Leu127=
ENST00000517951.5:c.*1741+25016G>A (ADAM19)	ENSP00000428376.1:n.*1741+25016G>A
ENST00000519150.1:c.291C>T (NIPAL4)	ENSP00000430810.1:p.Ser97=
ENST00000519946.1:n.407C>T (NIPAL4)
ENST00000521390.5:n.298C>T (NIPAL4)
NM_001099287.1:c.379C>T (NIPAL4)	NP_001092757.1:p.Leu127=
NM_001172292.1:c.379C>T (NIPAL4)	NP_001165763.1:p.Leu127=
XM_011534552.1:c.-117C>T (NIPAL4)	XP_011532854.1:n.-117C>T
XM_024446043.1:c.-264C>T (NIPAL4)	XP_024301811.1:n.-264C>T
NM_001099287.2:c.193C>T (NIPAL4) MANE Select	NP_001092757.2:p.Leu65=