Canonical Allele Identifier: CA361980327

Gene: NIPAL4 ADAM19

Linked Data

• MyVariant Identifiers: chr5:g.156890308T>G (hg19) ; chr5:g.157463300T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463300T>G , CM000667.2:g.157463300T>G	GRCh38
NC_000005.9:g.156890308T>G , CM000667.1:g.156890308T>G	GRCh37
NC_000005.8:g.156822886T>G	NCBI36
NG_016626.1:g.8282T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.244T>G (NIPAL4) MANE Select	ENSP00000311687.8:p.Leu82Val
ENST00000435489.7:c.244T>G (NIPAL4)	ENSP00000406456.3:p.Leu82Val
ENST00000311946.7:c.430T>G (NIPAL4)	ENSP00000311687.7:p.Leu144Val
ENST00000435489.6:c.430T>G (NIPAL4)	ENSP00000406456.2:p.Leu144Val
ENST00000517951.5:c.*1741+24965A>C (ADAM19)	ENSP00000428376.1:n.*1741+24965A>C
ENST00000519150.1:c.342T>G (NIPAL4)	ENSP00000430810.1:p.Ser114=
ENST00000519946.1:n.458T>G (NIPAL4)
ENST00000521390.5:n.349T>G (NIPAL4)
NM_001099287.1:c.430T>G (NIPAL4)	NP_001092757.1:p.Leu144Val
NM_001172292.1:c.430T>G (NIPAL4)	NP_001165763.1:p.Leu144Val
XM_011534552.1:c.-66T>G (NIPAL4)	XP_011532854.1:n.-66T>G
XM_024446043.1:c.-213T>G (NIPAL4)	XP_024301811.1:n.-213T>G
NM_001099287.2:c.244T>G (NIPAL4) MANE Select	NP_001092757.2:p.Leu82Val