Canonical Allele Identifier: CA361980329

Gene: NIPAL4 ADAM19

Linked Data

• MyVariant Identifiers: chr5:g.156890309T>G (hg19) ; chr5:g.157463301T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463301T>G , CM000667.2:g.157463301T>G	GRCh38
NC_000005.9:g.156890309T>G , CM000667.1:g.156890309T>G	GRCh37
NC_000005.8:g.156822887T>G	NCBI36
NG_016626.1:g.8283T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.245T>G (NIPAL4) MANE Select	ENSP00000311687.8:p.Leu82Trp
ENST00000435489.7:c.245T>G (NIPAL4)	ENSP00000406456.3:p.Leu82Trp
ENST00000311946.7:c.431T>G (NIPAL4)	ENSP00000311687.7:p.Leu144Trp
ENST00000435489.6:c.431T>G (NIPAL4)	ENSP00000406456.2:p.Leu144Trp
ENST00000517951.5:c.*1741+24964A>C (ADAM19)	ENSP00000428376.1:n.*1741+24964A>C
ENST00000519150.1:c.343T>G (NIPAL4)	ENSP00000430810.1:p.Cys115Gly
ENST00000519946.1:n.459T>G (NIPAL4)
ENST00000521390.5:n.350T>G (NIPAL4)
NM_001099287.1:c.431T>G (NIPAL4)	NP_001092757.1:p.Leu144Trp
NM_001172292.1:c.431T>G (NIPAL4)	NP_001165763.1:p.Leu144Trp
XM_011534552.1:c.-65T>G (NIPAL4)	XP_011532854.1:n.-65T>G
XM_024446043.1:c.-212T>G (NIPAL4)	XP_024301811.1:n.-212T>G
NM_001099287.2:c.245T>G (NIPAL4) MANE Select	NP_001092757.2:p.Leu82Trp