Canonical Allele Identifier: CA3534549

Gene: NIPAL4 ADAM19

Linked Data

• dbSNP Id: rs781129019
• ExAC: 5:156890267 T / C
• gnomAD v2: 5-156890267-T-C
• gnomAD v4: 5-157463259-T-C
• MyVariant Identifiers: chr5:g.156890267T>C (hg19) ; chr5:g.157463259T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463259T>C , CM000667.2:g.157463259T>C	GRCh38
NC_000005.9:g.156890267T>C , CM000667.1:g.156890267T>C	GRCh37
NC_000005.8:g.156822845T>C	NCBI36
NG_016626.1:g.8241T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.203T>C (NIPAL4) MANE Select	ENSP00000311687.8:p.Phe68Ser
ENST00000435489.7:c.203T>C (NIPAL4)	ENSP00000406456.3:p.Phe68Ser
ENST00000311946.7:c.389T>C (NIPAL4)	ENSP00000311687.7:p.Phe130Ser
ENST00000435489.6:c.389T>C (NIPAL4)	ENSP00000406456.2:p.Phe130Ser
ENST00000517951.5:c.*1741+25006A>G (ADAM19)	ENSP00000428376.1:n.*1741+25006A>G
ENST00000519150.1:c.301T>C (NIPAL4)	ENSP00000430810.1:p.Ser101Pro
ENST00000519946.1:n.417T>C (NIPAL4)
ENST00000521390.5:n.308T>C (NIPAL4)
NM_001099287.1:c.389T>C (NIPAL4)	NP_001092757.1:p.Phe130Ser
NM_001172292.1:c.389T>C (NIPAL4)	NP_001165763.1:p.Phe130Ser
XM_011534552.1:c.-107T>C (NIPAL4)	XP_011532854.1:n.-107T>C
XM_024446043.1:c.-254T>C (NIPAL4)	XP_024301811.1:n.-254T>C
NM_001099287.2:c.203T>C (NIPAL4) MANE Select	NP_001092757.2:p.Phe68Ser