Canonical Allele Identifier: CA361972770
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471784A>C , CM000667.2:g.157471784A>C GRCh38
NC_000005.9:g.156898792A>C , CM000667.1:g.156898792A>C GRCh37
NC_000005.8:g.156831370A>C NCBI36
NG_016626.1:g.16766A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.553A>C (NIPAL4) MANE Select ENSP00000311687.8:p.Ile185Leu
ENST00000435489.7:c.496A>C (NIPAL4) ENSP00000406456.3:p.Ile166Leu
ENST00000311946.7:c.739A>C (NIPAL4) ENSP00000311687.7:p.Ile247Leu
ENST00000435489.6:c.682A>C (NIPAL4) ENSP00000406456.2:p.Ile228Leu
ENST00000517951.5:c.*1741+16481T>G (ADAM19) ENSP00000428376.1:n.*1741+16481T>G
ENST00000519150.1:c.651A>C (NIPAL4) ENSP00000430810.1:n.651A>C
NM_001099287.1:c.739A>C (NIPAL4) NP_001092757.1:p.Ile247Leu
NM_001172292.1:c.682A>C (NIPAL4) NP_001165763.1:p.Ile228Leu
XM_011534552.1:c.244A>C (NIPAL4) XP_011532854.1:p.Ile82Leu
XM_024446043.1:c.40A>C (NIPAL4) XP_024301811.1:p.Ile14Leu
NM_001099287.2:c.553A>C (NIPAL4) MANE Select NP_001092757.2:p.Ile185Leu