Canonical Allele Identifier: CA447676995

Gene: NIPAL4 ADAM19

Linked Data

• dbSNP Id: rs1277747600
• gnomAD v2: 5-156890187-C-T
• gnomAD v4: 5-157463179-C-T
• MyVariant Identifiers: chr5:g.156890187C>T (hg19) ; chr5:g.157463179C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463179C>T , CM000667.2:g.157463179C>T	GRCh38
NC_000005.9:g.156890187C>T , CM000667.1:g.156890187C>T	GRCh37
NC_000005.8:g.156822765C>T	NCBI36
NG_016626.1:g.8161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.123C>T (NIPAL4) MANE Select	ENSP00000311687.8:p.Ala41=
ENST00000435489.7:c.123C>T (NIPAL4)	ENSP00000406456.3:p.Ala41=
ENST00000311946.7:c.309C>T (NIPAL4)	ENSP00000311687.7:p.Ala103=
ENST00000435489.6:c.309C>T (NIPAL4)	ENSP00000406456.2:p.Ala103=
ENST00000517951.5:c.*1741+25086G>A (ADAM19)	ENSP00000428376.1:n.*1741+25086G>A
ENST00000519150.1:c.221C>T (NIPAL4)	ENSP00000430810.1:p.Pro74Leu
ENST00000519946.1:n.337C>T (NIPAL4)
ENST00000521390.5:n.228C>T (NIPAL4)
NM_001099287.1:c.309C>T (NIPAL4)	NP_001092757.1:p.Ala103=
NM_001172292.1:c.309C>T (NIPAL4)	NP_001165763.1:p.Ala103=
XM_011534552.1:c.-187C>T (NIPAL4)	XP_011532854.1:n.-187C>T
XM_024446043.1:c.-334C>T (NIPAL4)	XP_024301811.1:n.-334C>T
NM_001099287.2:c.123C>T (NIPAL4) MANE Select	NP_001092757.2:p.Ala41=