Canonical Allele Identifier: CA361972802
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471797C>G , CM000667.2:g.157471797C>G GRCh38
NC_000005.9:g.156898805C>G , CM000667.1:g.156898805C>G GRCh37
NC_000005.8:g.156831383C>G NCBI36
NG_016626.1:g.16779C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.566C>G (NIPAL4) MANE Select ENSP00000311687.8:p.Ala189Gly
ENST00000435489.7:c.509C>G (NIPAL4) ENSP00000406456.3:p.Ala170Gly
ENST00000311946.7:c.752C>G (NIPAL4) ENSP00000311687.7:p.Ala251Gly
ENST00000435489.6:c.695C>G (NIPAL4) ENSP00000406456.2:p.Ala232Gly
ENST00000517951.5:c.*1741+16468G>C (ADAM19) ENSP00000428376.1:n.*1741+16468G>C
ENST00000519150.1:c.664C>G (NIPAL4) ENSP00000430810.1:n.664C>G
NM_001099287.1:c.752C>G (NIPAL4) NP_001092757.1:p.Ala251Gly
NM_001172292.1:c.695C>G (NIPAL4) NP_001165763.1:p.Ala232Gly
XM_011534552.1:c.257C>G (NIPAL4) XP_011532854.1:p.Ala86Gly
XM_024446043.1:c.53C>G (NIPAL4) XP_024301811.1:p.Ala18Gly
NM_001099287.2:c.566C>G (NIPAL4) MANE Select NP_001092757.2:p.Ala189Gly