Canonical Allele Identifier: CA2581499959
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463391C>G , CM000667.2:g.157463391C>G GRCh38
NC_000005.9:g.156890399C>G , CM000667.1:g.156890399C>G GRCh37
NC_000005.8:g.156822977C>G NCBI36
NG_016626.1:g.8373C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.277+58C>G (NIPAL4) MANE Select ENSP00000311687.8:n.277+58C>G
ENST00000435489.7:c.277+58C>G (NIPAL4) ENSP00000406456.3:n.277+58C>G
ENST00000311946.7:c.463+58C>G (NIPAL4) ENSP00000311687.7:n.463+58C>G
ENST00000435489.6:c.463+58C>G (NIPAL4) ENSP00000406456.2:n.463+58C>G
ENST00000517951.5:c.*1741+24874G>C (ADAM19) ENSP00000428376.1:n.*1741+24874G>C
ENST00000519150.1:c.375+58C>G (NIPAL4) ENSP00000430810.1:n.375+58C>G
ENST00000519946.1:n.491+58C>G (NIPAL4)
ENST00000521390.5:n.382+58C>G (NIPAL4)
NM_001099287.1:c.463+58C>G (NIPAL4) NP_001092757.1:n.463+58C>G
NM_001172292.1:c.463+58C>G (NIPAL4) NP_001165763.1:n.463+58C>G
XM_011534552.1:c.-33+58C>G (NIPAL4) XP_011532854.1:n.-33+58C>G
XM_024446043.1:c.-180+58C>G (NIPAL4) XP_024301811.1:n.-180+58C>G
NM_001099287.2:c.277+58C>G (NIPAL4) MANE Select NP_001092757.2:n.277+58C>G