Canonical Allele Identifier: CA361980197

Gene: NIPAL4 ADAM19

Linked Data

• dbSNP Id: rs1213302004
• gnomAD v3: 5-157463238-G-A
• gnomAD v4: 5-157463238-G-A
• COSMIC: COSM371448
• MyVariant Identifiers: chr5:g.156890246G>A (hg19) ; chr5:g.157463238G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463238G>A , CM000667.2:g.157463238G>A	GRCh38
NC_000005.9:g.156890246G>A , CM000667.1:g.156890246G>A	GRCh37
NC_000005.8:g.156822824G>A	NCBI36
NG_016626.1:g.8220G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.182G>A (NIPAL4) MANE Select	ENSP00000311687.8:p.Gly61Asp
ENST00000435489.7:c.182G>A (NIPAL4)	ENSP00000406456.3:p.Gly61Asp
ENST00000311946.7:c.368G>A (NIPAL4)	ENSP00000311687.7:p.Gly123Asp
ENST00000435489.6:c.368G>A (NIPAL4)	ENSP00000406456.2:p.Gly123Asp
ENST00000517951.5:c.*1741+25027C>T (ADAM19)	ENSP00000428376.1:n.*1741+25027C>T
ENST00000519150.1:c.280G>A (NIPAL4)	ENSP00000430810.1:p.Ala94Thr
ENST00000519946.1:n.396G>A (NIPAL4)
ENST00000521390.5:n.287G>A (NIPAL4)
NM_001099287.1:c.368G>A (NIPAL4)	NP_001092757.1:p.Gly123Asp
NM_001172292.1:c.368G>A (NIPAL4)	NP_001165763.1:p.Gly123Asp
XM_011534552.1:c.-128G>A (NIPAL4)	XP_011532854.1:n.-128G>A
XM_024446043.1:c.-275G>A (NIPAL4)	XP_024301811.1:n.-275G>A
NM_001099287.2:c.182G>A (NIPAL4) MANE Select	NP_001092757.2:p.Gly61Asp