Canonical Allele Identifier: CA447678191
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.156890307C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463299C>A , CM000667.2:g.157463299C>A GRCh38
NC_000005.9:g.156890307C>A , CM000667.1:g.156890307C>A GRCh37
NC_000005.8:g.156822885C>A NCBI36
NG_016626.1:g.8281C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.243C>A (NIPAL4) MANE Select ENSP00000311687.8:p.Leu81=
ENST00000435489.7:c.243C>A (NIPAL4) ENSP00000406456.3:p.Leu81=
ENST00000311946.7:c.429C>A (NIPAL4) ENSP00000311687.7:p.Leu143=
ENST00000435489.6:c.429C>A (NIPAL4) ENSP00000406456.2:p.Leu143=
ENST00000517951.5:c.*1741+24966G>T (ADAM19) ENSP00000428376.1:n.*1741+24966G>T
ENST00000519150.1:c.341C>A (NIPAL4) ENSP00000430810.1:p.Ser114Tyr
ENST00000519946.1:n.457C>A (NIPAL4)
ENST00000521390.5:n.348C>A (NIPAL4)
NM_001099287.1:c.429C>A (NIPAL4) NP_001092757.1:p.Leu143=
NM_001172292.1:c.429C>A (NIPAL4) NP_001165763.1:p.Leu143=
XM_011534552.1:c.-67C>A (NIPAL4) XP_011532854.1:n.-67C>A
XM_024446043.1:c.-214C>A (NIPAL4) XP_024301811.1:n.-214C>A
NM_001099287.2:c.243C>A (NIPAL4) MANE Select NP_001092757.2:p.Leu81=