Canonical Allele Identifier: CA447676940

Gene: NIPAL4 ADAM19

Linked Data

• dbSNP Id: rs1483349431
• gnomAD v2: 5-156890112-C-T
• gnomAD v4: 5-157463104-C-T
• MyVariant Identifiers: chr5:g.156890112C>T (hg19) ; chr5:g.157463104C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463104C>T , CM000667.2:g.157463104C>T	GRCh38
NC_000005.9:g.156890112C>T , CM000667.1:g.156890112C>T	GRCh37
NC_000005.8:g.156822690C>T	NCBI36
NG_016626.1:g.8086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.48C>T (NIPAL4) MANE Select	ENSP00000311687.8:p.Leu16=
ENST00000435489.7:c.48C>T (NIPAL4)	ENSP00000406456.3:p.Leu16=
ENST00000311946.7:c.234C>T (NIPAL4)	ENSP00000311687.7:p.Leu78=
ENST00000435489.6:c.234C>T (NIPAL4)	ENSP00000406456.2:p.Leu78=
ENST00000517951.5:c.*1741+25161G>A (ADAM19)	ENSP00000428376.1:n.*1741+25161G>A
ENST00000519150.1:c.146C>T (NIPAL4)	ENSP00000430810.1:p.Ser49Phe
ENST00000519946.1:n.262C>T (NIPAL4)
ENST00000521390.5:n.153C>T (NIPAL4)
NM_001099287.1:c.234C>T (NIPAL4)	NP_001092757.1:p.Leu78=
NM_001172292.1:c.234C>T (NIPAL4)	NP_001165763.1:p.Leu78=
XM_011534552.1:c.-262C>T (NIPAL4)	XP_011532854.1:n.-262C>T
XM_024446043.1:c.-409C>T (NIPAL4)	XP_024301811.1:n.-409C>T
NM_001099287.2:c.48C>T (NIPAL4) MANE Select	NP_001092757.2:p.Leu16=