Canonical Allele Identifier: CA361980374

Gene: NIPAL4 ADAM19

Linked Data

• dbSNP Id: rs1442509035
• gnomAD v2: 5-156890336-G-A
• gnomAD v4: 5-157463328-G-A
• COSMIC: COSM1065032 ; COSM1595185
• MyVariant Identifiers: chr5:g.156890336G>A (hg19) ; chr5:g.157463328G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463328G>A , CM000667.2:g.157463328G>A	GRCh38
NC_000005.9:g.156890336G>A , CM000667.1:g.156890336G>A	GRCh37
NC_000005.8:g.156822914G>A	NCBI36
NG_016626.1:g.8310G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.272G>A (NIPAL4) MANE Select	ENSP00000311687.8:p.Arg91Gln
ENST00000435489.7:c.272G>A (NIPAL4)	ENSP00000406456.3:p.Arg91Gln
ENST00000311946.7:c.458G>A (NIPAL4)	ENSP00000311687.7:p.Arg153Gln
ENST00000435489.6:c.458G>A (NIPAL4)	ENSP00000406456.2:p.Arg153Gln
ENST00000517951.5:c.*1741+24937C>T (ADAM19)	ENSP00000428376.1:n.*1741+24937C>T
ENST00000519150.1:c.370G>A (NIPAL4)	ENSP00000430810.1:p.Glu124Lys
ENST00000519946.1:n.486G>A (NIPAL4)
ENST00000521390.5:n.377G>A (NIPAL4)
NM_001099287.1:c.458G>A (NIPAL4)	NP_001092757.1:p.Arg153Gln
NM_001172292.1:c.458G>A (NIPAL4)	NP_001165763.1:p.Arg153Gln
XM_011534552.1:c.-38G>A (NIPAL4)	XP_011532854.1:n.-38G>A
XM_024446043.1:c.-185G>A (NIPAL4)	XP_024301811.1:n.-185G>A
NM_001099287.2:c.272G>A (NIPAL4) MANE Select	NP_001092757.2:p.Arg91Gln