Canonical Allele Identifier: CA361972801

Gene: NIPAL4 ADAM19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157471797C>T , CM000667.2:g.157471797C>T	GRCh38
NC_000005.9:g.156898805C>T , CM000667.1:g.156898805C>T	GRCh37
NC_000005.8:g.156831383C>T	NCBI36
NG_016626.1:g.16779C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.566C>T (NIPAL4) MANE Select	ENSP00000311687.8:p.Ala189Val
ENST00000435489.7:c.509C>T (NIPAL4)	ENSP00000406456.3:p.Ala170Val
ENST00000311946.7:c.752C>T (NIPAL4)	ENSP00000311687.7:p.Ala251Val
ENST00000435489.6:c.695C>T (NIPAL4)	ENSP00000406456.2:p.Ala232Val
ENST00000517951.5:c.*1741+16468G>A (ADAM19)	ENSP00000428376.1:n.*1741+16468G>A
ENST00000519150.1:c.664C>T (NIPAL4)	ENSP00000430810.1:n.664C>T
NM_001099287.1:c.752C>T (NIPAL4)	NP_001092757.1:p.Ala251Val
NM_001172292.1:c.695C>T (NIPAL4)	NP_001165763.1:p.Ala232Val
XM_011534552.1:c.257C>T (NIPAL4)	XP_011532854.1:p.Ala86Val
XM_024446043.1:c.53C>T (NIPAL4)	XP_024301811.1:p.Ala18Val
NM_001099287.2:c.566C>T (NIPAL4) MANE Select	NP_001092757.2:p.Ala189Val