Canonical Allele Identifier: CA447431188
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471690T>C , CM000667.2:g.157471690T>C GRCh38
NC_000005.9:g.156898698T>C , CM000667.1:g.156898698T>C GRCh37
NC_000005.8:g.156831276T>C NCBI36
NG_016626.1:g.16672T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.459T>C (NIPAL4) MANE Select ENSP00000311687.8:p.Ser153=
ENST00000435489.7:c.402T>C (NIPAL4) ENSP00000406456.3:p.Ser134=
ENST00000311946.7:c.645T>C (NIPAL4) ENSP00000311687.7:p.Ser215=
ENST00000435489.6:c.588T>C (NIPAL4) ENSP00000406456.2:p.Ser196=
ENST00000517951.5:c.*1741+16575A>G (ADAM19) ENSP00000428376.1:n.*1741+16575A>G
ENST00000519150.1:c.557T>C (NIPAL4) ENSP00000430810.1:n.557T>C
NM_001099287.1:c.645T>C (NIPAL4) NP_001092757.1:p.Ser215=
NM_001172292.1:c.588T>C (NIPAL4) NP_001165763.1:p.Ser196=
XM_011534552.1:c.150T>C (NIPAL4) XP_011532854.1:p.Ser50=
XM_024446043.1:c.-55T>C (NIPAL4) XP_024301811.1:n.-55T>C
NM_001099287.2:c.459T>C (NIPAL4) MANE Select NP_001092757.2:p.Ser153=