Canonical Allele Identifier: CA361972806

Gene: NIPAL4 ADAM19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157471799T>G , CM000667.2:g.157471799T>G	GRCh38
NC_000005.9:g.156898807T>G , CM000667.1:g.156898807T>G	GRCh37
NC_000005.8:g.156831385T>G	NCBI36
NG_016626.1:g.16781T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.568T>G (NIPAL4) MANE Select	ENSP00000311687.8:p.Ser190Ala
ENST00000435489.7:c.511T>G (NIPAL4)	ENSP00000406456.3:p.Ser171Ala
ENST00000311946.7:c.754T>G (NIPAL4)	ENSP00000311687.7:p.Ser252Ala
ENST00000435489.6:c.697T>G (NIPAL4)	ENSP00000406456.2:p.Ser233Ala
ENST00000517951.5:c.*1741+16466A>C (ADAM19)	ENSP00000428376.1:n.*1741+16466A>C
ENST00000519150.1:c.666T>G (NIPAL4)	ENSP00000430810.1:n.666T>G
NM_001099287.1:c.754T>G (NIPAL4)	NP_001092757.1:p.Ser252Ala
NM_001172292.1:c.697T>G (NIPAL4)	NP_001165763.1:p.Ser233Ala
XM_011534552.1:c.259T>G (NIPAL4)	XP_011532854.1:p.Ser87Ala
XM_024446043.1:c.55T>G (NIPAL4)	XP_024301811.1:p.Ser19Ala
NM_001099287.2:c.568T>G (NIPAL4) MANE Select	NP_001092757.2:p.Ser190Ala