Canonical Allele Identifier: CA361971645

Gene: NIPAL4 ADAM19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157467064G>T , CM000667.2:g.157467064G>T	GRCh38
NC_000005.9:g.156894072G>T , CM000667.1:g.156894072G>T	GRCh37
NC_000005.8:g.156826650G>T	NCBI36
NG_016626.1:g.12046G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001099287.2:c.293G>T (NIPAL4) MANE Select	NP_001092757.2:p.Gly98Val
ENST00000311946.8:c.293G>T (NIPAL4) MANE Select	ENSP00000311687.8:p.Gly98Val
NM_001099287.1:c.479G>T (NIPAL4)	NP_001092757.1:p.Gly160Val
NM_001172292.1:c.464-1658G>T (NIPAL4)	NP_001165763.1:n.464-1658G>T
ENST00000311946.7:c.479G>T (NIPAL4)	ENSP00000311687.7:p.Gly160Val
ENST00000435489.6:c.464-1658G>T (NIPAL4)	ENSP00000406456.2:n.464-1658G>T
ENST00000435489.7:c.278-1658G>T (NIPAL4)	ENSP00000406456.3:n.278-1658G>T
ENST00000517951.5:c.*1741+21201C>A (ADAM19)	ENSP00000428376.1:n.*1741+21201C>A
ENST00000519150.1:c.391G>T (NIPAL4)	ENSP00000430810.1:p.Ala131Ser
ENST00000519946.1:n.507G>T (NIPAL4)
ENST00000521390.5:n.398G>T (NIPAL4)
XM_011534552.1:c.-17G>T (NIPAL4)	XP_011532854.1:n.-17G>T
XM_024446043.1:c.-179-1658G>T (NIPAL4)	XP_024301811.1:n.-179-1658G>T