Canonical Allele Identifier: CA361972759
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471778A>C , CM000667.2:g.157471778A>C GRCh38
NC_000005.9:g.156898786A>C , CM000667.1:g.156898786A>C GRCh37
NC_000005.8:g.156831364A>C NCBI36
NG_016626.1:g.16760A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.547A>C (NIPAL4) MANE Select ENSP00000311687.8:p.Thr183Pro
ENST00000435489.7:c.490A>C (NIPAL4) ENSP00000406456.3:p.Thr164Pro
ENST00000311946.7:c.733A>C (NIPAL4) ENSP00000311687.7:p.Thr245Pro
ENST00000435489.6:c.676A>C (NIPAL4) ENSP00000406456.2:p.Thr226Pro
ENST00000517951.5:c.*1741+16487T>G (ADAM19) ENSP00000428376.1:n.*1741+16487T>G
ENST00000519150.1:c.645A>C (NIPAL4) ENSP00000430810.1:n.645A>C
NM_001099287.1:c.733A>C (NIPAL4) NP_001092757.1:p.Thr245Pro
NM_001172292.1:c.676A>C (NIPAL4) NP_001165763.1:p.Thr226Pro
XM_011534552.1:c.238A>C (NIPAL4) XP_011532854.1:p.Thr80Pro
XM_024446043.1:c.34A>C (NIPAL4) XP_024301811.1:p.Thr12Pro
NM_001099287.2:c.547A>C (NIPAL4) MANE Select NP_001092757.2:p.Thr183Pro