Canonical Allele Identifier: CA361979965
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463157G>C , CM000667.2:g.157463157G>C GRCh38
NC_000005.9:g.156890165G>C , CM000667.1:g.156890165G>C GRCh37
NC_000005.8:g.156822743G>C NCBI36
NG_016626.1:g.8139G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.101G>C (NIPAL4) MANE Select ENSP00000311687.8:p.Ser34Thr
ENST00000435489.7:c.101G>C (NIPAL4) ENSP00000406456.3:p.Ser34Thr
ENST00000311946.7:c.287G>C (NIPAL4) ENSP00000311687.7:p.Ser96Thr
ENST00000435489.6:c.287G>C (NIPAL4) ENSP00000406456.2:p.Ser96Thr
ENST00000517951.5:c.*1741+25108C>G (ADAM19) ENSP00000428376.1:n.*1741+25108C>G
ENST00000519150.1:c.199G>C (NIPAL4) ENSP00000430810.1:p.Ala67Pro
ENST00000519946.1:n.315G>C (NIPAL4)
ENST00000521390.5:n.206G>C (NIPAL4)
NM_001099287.1:c.287G>C (NIPAL4) NP_001092757.1:p.Ser96Thr
NM_001172292.1:c.287G>C (NIPAL4) NP_001165763.1:p.Ser96Thr
XM_011534552.1:c.-209G>C (NIPAL4) XP_011532854.1:n.-209G>C
XM_024446043.1:c.-356G>C (NIPAL4) XP_024301811.1:n.-356G>C
NM_001099287.2:c.101G>C (NIPAL4) MANE Select NP_001092757.2:p.Ser34Thr