Canonical Allele Identifier: CA361972796

Gene: NIPAL4 ADAM19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157471795G>C , CM000667.2:g.157471795G>C	GRCh38
NC_000005.9:g.156898803G>C , CM000667.1:g.156898803G>C	GRCh37
NC_000005.8:g.156831381G>C	NCBI36
NG_016626.1:g.16777G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.564G>C (NIPAL4) MANE Select	ENSP00000311687.8:p.Met188Ile
ENST00000435489.7:c.507G>C (NIPAL4)	ENSP00000406456.3:p.Met169Ile
ENST00000311946.7:c.750G>C (NIPAL4)	ENSP00000311687.7:p.Met250Ile
ENST00000435489.6:c.693G>C (NIPAL4)	ENSP00000406456.2:p.Met231Ile
ENST00000517951.5:c.*1741+16470C>G (ADAM19)	ENSP00000428376.1:n.*1741+16470C>G
ENST00000519150.1:c.662G>C (NIPAL4)	ENSP00000430810.1:n.662G>C
NM_001099287.1:c.750G>C (NIPAL4)	NP_001092757.1:p.Met250Ile
NM_001172292.1:c.693G>C (NIPAL4)	NP_001165763.1:p.Met231Ile
XM_011534552.1:c.255G>C (NIPAL4)	XP_011532854.1:p.Met85Ile
XM_024446043.1:c.51G>C (NIPAL4)	XP_024301811.1:p.Met17Ile
NM_001099287.2:c.564G>C (NIPAL4) MANE Select	NP_001092757.2:p.Met188Ile