Canonical Allele Identifier: CA361979996

Gene: NIPAL4 ADAM19

Linked Data

• MyVariant Identifiers: chr5:g.156890177C>A (hg19) ; chr5:g.157463169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463169C>A , CM000667.2:g.157463169C>A	GRCh38
NC_000005.9:g.156890177C>A , CM000667.1:g.156890177C>A	GRCh37
NC_000005.8:g.156822755C>A	NCBI36
NG_016626.1:g.8151C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.113C>A (NIPAL4) MANE Select	ENSP00000311687.8:p.Pro38His
ENST00000435489.7:c.113C>A (NIPAL4)	ENSP00000406456.3:p.Pro38His
ENST00000311946.7:c.299C>A (NIPAL4)	ENSP00000311687.7:p.Pro100His
ENST00000435489.6:c.299C>A (NIPAL4)	ENSP00000406456.2:p.Pro100His
ENST00000517951.5:c.*1741+25096G>T (ADAM19)	ENSP00000428376.1:n.*1741+25096G>T
ENST00000519150.1:c.211C>A (NIPAL4)	ENSP00000430810.1:p.Pro71Thr
ENST00000519946.1:n.327C>A (NIPAL4)
ENST00000521390.5:n.218C>A (NIPAL4)
NM_001099287.1:c.299C>A (NIPAL4)	NP_001092757.1:p.Pro100His
NM_001172292.1:c.299C>A (NIPAL4)	NP_001165763.1:p.Pro100His
XM_011534552.1:c.-197C>A (NIPAL4)	XP_011532854.1:n.-197C>A
XM_024446043.1:c.-344C>A (NIPAL4)	XP_024301811.1:n.-344C>A
NM_001099287.2:c.113C>A (NIPAL4) MANE Select	NP_001092757.2:p.Pro38His