Canonical Allele Identifier: CA3534564

Gene: NIPAL4 ADAM19

Linked Data

• dbSNP Id: rs188020393
• ExAC: 5:156890324 C / G
• gnomAD v2: 5-156890324-C-G
• gnomAD v4: 5-157463316-C-G
• MyVariant Identifiers: chr5:g.156890324C>G (hg19) ; chr5:g.157463316C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000311946.8:c.260C>G (NIPAL4) MANE Select	ENSP00000311687.8:p.Thr87Arg
ENST00000435489.7:c.260C>G (NIPAL4)	ENSP00000406456.3:p.Thr87Arg
ENST00000311946.7:c.446C>G (NIPAL4)	ENSP00000311687.7:p.Thr149Arg
ENST00000435489.6:c.446C>G (NIPAL4)	ENSP00000406456.2:p.Thr149Arg
ENST00000517951.5:c.*1741+24949G>C (ADAM19)	ENSP00000428376.1:n.*1741+24949G>C
ENST00000519150.1:c.358C>G (NIPAL4)	ENSP00000430810.1:p.Arg120Gly
ENST00000519946.1:n.474C>G (NIPAL4)
ENST00000521390.5:n.365C>G (NIPAL4)
NM_001099287.1:c.446C>G (NIPAL4)	NP_001092757.1:p.Thr149Arg
NM_001172292.1:c.446C>G (NIPAL4)	NP_001165763.1:p.Thr149Arg
XM_011534552.1:c.-50C>G (NIPAL4)	XP_011532854.1:n.-50C>G
XM_024446043.1:c.-197C>G (NIPAL4)	XP_024301811.1:n.-197C>G
NM_001099287.2:c.260C>G (NIPAL4) MANE Select	NP_001092757.2:p.Thr87Arg