Canonical Allele Identifier: CA447678101
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.156890244G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463236G>A , CM000667.2:g.157463236G>A GRCh38
NC_000005.9:g.156890244G>A , CM000667.1:g.156890244G>A GRCh37
NC_000005.8:g.156822822G>A NCBI36
NG_016626.1:g.8218G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.180G>A (NIPAL4) MANE Select ENSP00000311687.8:p.Leu60=
ENST00000435489.7:c.180G>A (NIPAL4) ENSP00000406456.3:p.Leu60=
ENST00000311946.7:c.366G>A (NIPAL4) ENSP00000311687.7:p.Leu122=
ENST00000435489.6:c.366G>A (NIPAL4) ENSP00000406456.2:p.Leu122=
ENST00000517951.5:c.*1741+25029C>T (ADAM19) ENSP00000428376.1:n.*1741+25029C>T
ENST00000519150.1:c.278G>A (NIPAL4) ENSP00000430810.1:p.Trp93Ter
ENST00000519946.1:n.394G>A (NIPAL4)
ENST00000521390.5:n.285G>A (NIPAL4)
NM_001099287.1:c.366G>A (NIPAL4) NP_001092757.1:p.Leu122=
NM_001172292.1:c.366G>A (NIPAL4) NP_001165763.1:p.Leu122=
XM_011534552.1:c.-130G>A (NIPAL4) XP_011532854.1:n.-130G>A
XM_024446043.1:c.-277G>A (NIPAL4) XP_024301811.1:n.-277G>A
NM_001099287.2:c.180G>A (NIPAL4) MANE Select NP_001092757.2:p.Leu60=