Canonical Allele Identifier: CA361980221

Gene: NIPAL4 ADAM19

Linked Data

• dbSNP Id: rs1371544074
• gnomAD v2: 5-156890258-T-C
• gnomAD v4: 5-157463250-T-C
• MyVariant Identifiers: chr5:g.156890258T>C (hg19) ; chr5:g.157463250T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463250T>C , CM000667.2:g.157463250T>C	GRCh38
NC_000005.9:g.156890258T>C , CM000667.1:g.156890258T>C	GRCh37
NC_000005.8:g.156822836T>C	NCBI36
NG_016626.1:g.8232T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.194T>C (NIPAL4) MANE Select	ENSP00000311687.8:p.Leu65Pro
ENST00000435489.7:c.194T>C (NIPAL4)	ENSP00000406456.3:p.Leu65Pro
ENST00000311946.7:c.380T>C (NIPAL4)	ENSP00000311687.7:p.Leu127Pro
ENST00000435489.6:c.380T>C (NIPAL4)	ENSP00000406456.2:p.Leu127Pro
ENST00000517951.5:c.*1741+25015A>G (ADAM19)	ENSP00000428376.1:n.*1741+25015A>G
ENST00000519150.1:c.292T>C (NIPAL4)	ENSP00000430810.1:p.Cys98Arg
ENST00000519946.1:n.408T>C (NIPAL4)
ENST00000521390.5:n.299T>C (NIPAL4)
NM_001099287.1:c.380T>C (NIPAL4)	NP_001092757.1:p.Leu127Pro
NM_001172292.1:c.380T>C (NIPAL4)	NP_001165763.1:p.Leu127Pro
XM_011534552.1:c.-116T>C (NIPAL4)	XP_011532854.1:n.-116T>C
XM_024446043.1:c.-263T>C (NIPAL4)	XP_024301811.1:n.-263T>C
NM_001099287.2:c.194T>C (NIPAL4) MANE Select	NP_001092757.2:p.Leu65Pro