Canonical Allele Identifier: CA1594183038
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463218T= , CM000667.2:g.157463218T= GRCh38
NC_000005.9:g.156890226T= , CM000667.1:g.156890226T= GRCh37
NC_000005.8:g.156822804T= NCBI36
NG_016626.1:g.8200T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.162T= (NIPAL4) MANE Select ENSP00000311687.8:p.Tyr54=
ENST00000435489.7:c.162T= (NIPAL4) ENSP00000406456.3:p.Tyr54=
ENST00000311946.7:c.348T= (NIPAL4) ENSP00000311687.7:p.Tyr116=
ENST00000435489.6:c.348T= (NIPAL4) ENSP00000406456.2:p.Tyr116=
ENST00000517951.5:c.*1741+25047A= (ADAM19) ENSP00000428376.1:n.*1741+25047A=
ENST00000519150.1:c.260T= (NIPAL4) ENSP00000430810.1:p.Met87=
ENST00000519946.1:n.376T= (NIPAL4)
ENST00000521390.5:n.267T= (NIPAL4)
NM_001099287.1:c.348T= (NIPAL4) NP_001092757.1:p.Tyr116=
NM_001172292.1:c.348T= (NIPAL4) NP_001165763.1:p.Tyr116=
XM_011534552.1:c.-148T= (NIPAL4) XP_011532854.1:n.-148T=
XM_024446043.1:c.-295T= (NIPAL4) XP_024301811.1:n.-295T=
NM_001099287.2:c.162T= (NIPAL4) MANE Select NP_001092757.2:p.Tyr54=