Canonical Allele Identifier: CA361972790

Gene: NIPAL4 ADAM19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157471793A>T , CM000667.2:g.157471793A>T	GRCh38
NC_000005.9:g.156898801A>T , CM000667.1:g.156898801A>T	GRCh37
NC_000005.8:g.156831379A>T	NCBI36
NG_016626.1:g.16775A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.562A>T (NIPAL4) MANE Select	ENSP00000311687.8:p.Met188Leu
ENST00000435489.7:c.505A>T (NIPAL4)	ENSP00000406456.3:p.Met169Leu
ENST00000311946.7:c.748A>T (NIPAL4)	ENSP00000311687.7:p.Met250Leu
ENST00000435489.6:c.691A>T (NIPAL4)	ENSP00000406456.2:p.Met231Leu
ENST00000517951.5:c.*1741+16472T>A (ADAM19)	ENSP00000428376.1:n.*1741+16472T>A
ENST00000519150.1:c.660A>T (NIPAL4)	ENSP00000430810.1:n.660A>T
NM_001099287.1:c.748A>T (NIPAL4)	NP_001092757.1:p.Met250Leu
NM_001172292.1:c.691A>T (NIPAL4)	NP_001165763.1:p.Met231Leu
XM_011534552.1:c.253A>T (NIPAL4)	XP_011532854.1:p.Met85Leu
XM_024446043.1:c.49A>T (NIPAL4)	XP_024301811.1:p.Met17Leu
NM_001099287.2:c.562A>T (NIPAL4) MANE Select	NP_001092757.2:p.Met188Leu