Canonical Allele Identifier: CA361980208

Gene: NIPAL4 ADAM19

Linked Data

• MyVariant Identifiers: chr5:g.156890252C>A (hg19) ; chr5:g.157463244C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463244C>A , CM000667.2:g.157463244C>A	GRCh38
NC_000005.9:g.156890252C>A , CM000667.1:g.156890252C>A	GRCh37
NC_000005.8:g.156822830C>A	NCBI36
NG_016626.1:g.8226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.188C>A (NIPAL4) MANE Select	ENSP00000311687.8:p.Ala63Glu
ENST00000435489.7:c.188C>A (NIPAL4)	ENSP00000406456.3:p.Ala63Glu
ENST00000311946.7:c.374C>A (NIPAL4)	ENSP00000311687.7:p.Ala125Glu
ENST00000435489.6:c.374C>A (NIPAL4)	ENSP00000406456.2:p.Ala125Glu
ENST00000517951.5:c.*1741+25021G>T (ADAM19)	ENSP00000428376.1:n.*1741+25021G>T
ENST00000519150.1:c.286C>A (NIPAL4)	ENSP00000430810.1:p.His96Asn
ENST00000519946.1:n.402C>A (NIPAL4)
ENST00000521390.5:n.293C>A (NIPAL4)
NM_001099287.1:c.374C>A (NIPAL4)	NP_001092757.1:p.Ala125Glu
NM_001172292.1:c.374C>A (NIPAL4)	NP_001165763.1:p.Ala125Glu
XM_011534552.1:c.-122C>A (NIPAL4)	XP_011532854.1:n.-122C>A
XM_024446043.1:c.-269C>A (NIPAL4)	XP_024301811.1:n.-269C>A
NM_001099287.2:c.188C>A (NIPAL4) MANE Select	NP_001092757.2:p.Ala63Glu