Canonical Allele Identifier: CA3534563

Gene: NIPAL4 ADAM19

Linked Data

• ClinVar Variation Id: 352509
• ClinVar RCV Id: RCV000399581 ; RCV000488017 ; RCV003957820
• dbSNP Id: rs188020393
• ExAC: 5:156890324 C / T
• gnomAD v2: 5-156890324-C-T
• gnomAD v3: 5-157463316-C-T
• gnomAD v4: 5-157463316-C-T
• MyVariant Identifiers: chr5:g.156890324C>T (hg19) ; chr5:g.157463316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463316C>T , CM000667.2:g.157463316C>T	GRCh38
NC_000005.9:g.156890324C>T , CM000667.1:g.156890324C>T	GRCh37
NC_000005.8:g.156822902C>T	NCBI36
NG_016626.1:g.8298C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000311946.8:c.260C>T (NIPAL4) MANE Select	ENSP00000311687.8:p.Thr87Met
ENST00000435489.7:c.260C>T (NIPAL4)	ENSP00000406456.3:p.Thr87Met
ENST00000311946.7:c.446C>T (NIPAL4)	ENSP00000311687.7:p.Thr149Met
ENST00000435489.6:c.446C>T (NIPAL4)	ENSP00000406456.2:p.Thr149Met
ENST00000517951.5:c.*1741+24949G>A (ADAM19)	ENSP00000428376.1:n.*1741+24949G>A
ENST00000519150.1:c.358C>T (NIPAL4)	ENSP00000430810.1:p.Arg120Trp
ENST00000519946.1:n.474C>T (NIPAL4)
ENST00000521390.5:n.365C>T (NIPAL4)
NM_001099287.1:c.446C>T (NIPAL4)	NP_001092757.1:p.Thr149Met
NM_001172292.1:c.446C>T (NIPAL4)	NP_001165763.1:p.Thr149Met
XM_011534552.1:c.-50C>T (NIPAL4)	XP_011532854.1:n.-50C>T
XM_024446043.1:c.-197C>T (NIPAL4)	XP_024301811.1:n.-197C>T
NM_001099287.2:c.260C>T (NIPAL4) MANE Select	NP_001092757.2:p.Thr87Met