Canonical Allele Identifier: CA447431199
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471699G>T , CM000667.2:g.157471699G>T GRCh38
NC_000005.9:g.156898707G>T , CM000667.1:g.156898707G>T GRCh37
NC_000005.8:g.156831285G>T NCBI36
NG_016626.1:g.16681G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.468G>T (NIPAL4) MANE Select ENSP00000311687.8:p.Leu156=
ENST00000435489.7:c.411G>T (NIPAL4) ENSP00000406456.3:p.Leu137=
ENST00000311946.7:c.654G>T (NIPAL4) ENSP00000311687.7:p.Leu218=
ENST00000435489.6:c.597G>T (NIPAL4) ENSP00000406456.2:p.Leu199=
ENST00000517951.5:c.*1741+16566C>A (ADAM19) ENSP00000428376.1:n.*1741+16566C>A
ENST00000519150.1:c.566G>T (NIPAL4) ENSP00000430810.1:n.566G>T
NM_001099287.1:c.654G>T (NIPAL4) NP_001092757.1:p.Leu218=
NM_001172292.1:c.597G>T (NIPAL4) NP_001165763.1:p.Leu199=
XM_011534552.1:c.159G>T (NIPAL4) XP_011532854.1:p.Leu53=
XM_024446043.1:c.-46G>T (NIPAL4) XP_024301811.1:n.-46G>T
NM_001099287.2:c.468G>T (NIPAL4) MANE Select NP_001092757.2:p.Leu156=