Canonical Allele Identifier: CA447676938
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.156890112C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463104C>A , CM000667.2:g.157463104C>A GRCh38
NC_000005.9:g.156890112C>A , CM000667.1:g.156890112C>A GRCh37
NC_000005.8:g.156822690C>A NCBI36
NG_016626.1:g.8086C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.48C>A (NIPAL4) MANE Select ENSP00000311687.8:p.Leu16=
ENST00000435489.7:c.48C>A (NIPAL4) ENSP00000406456.3:p.Leu16=
ENST00000311946.7:c.234C>A (NIPAL4) ENSP00000311687.7:p.Leu78=
ENST00000435489.6:c.234C>A (NIPAL4) ENSP00000406456.2:p.Leu78=
ENST00000517951.5:c.*1741+25161G>T (ADAM19) ENSP00000428376.1:n.*1741+25161G>T
ENST00000519150.1:c.146C>A (NIPAL4) ENSP00000430810.1:p.Ser49Tyr
ENST00000519946.1:n.262C>A (NIPAL4)
ENST00000521390.5:n.153C>A (NIPAL4)
NM_001099287.1:c.234C>A (NIPAL4) NP_001092757.1:p.Leu78=
NM_001172292.1:c.234C>A (NIPAL4) NP_001165763.1:p.Leu78=
XM_011534552.1:c.-262C>A (NIPAL4) XP_011532854.1:n.-262C>A
XM_024446043.1:c.-409C>A (NIPAL4) XP_024301811.1:n.-409C>A
NM_001099287.2:c.48C>A (NIPAL4) MANE Select NP_001092757.2:p.Leu16=