Canonical Allele Identifier: CA174822

Gene: PLD3 HIPK4

Linked Data

• ClinVar Variation Id: 161807
• ClinVar RCV Id: RCV000149343
• dbSNP Id: rs193920880
• ExAC: 19:40886619 C / T
• gnomAD v2: 19-40886619-C-T
• gnomAD v3: 19-40380712-C-T
• gnomAD v4: 19-40380712-C-T
• COSMIC: COSM1179940 ; COSM1179941
• MyVariant Identifiers: chr19:g.40886619C>T (hg19) ; chr19:g.40380712C>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40380712C>T , CM000681.2:g.40380712C>T	GRCh38
NC_000019.9:g.40886619C>T , CM000681.1:g.40886619C>T	GRCh37
NC_000019.8:g.45578459C>T	NCBI36
NG_051224.1:g.14510G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700616.1:c.*2539C>T (PLD3)	ENSP00000515107.1:n.*2539C>T
ENST00000700619.1:c.*386C>T (PLD3)	ENSP00000515110.1:n.*386C>T
ENST00000700620.1:c.*50+2489C>T (PLD3)	ENSP00000515111.1:n.*50+2489C>T
ENST00000700621.1:c.*2539C>T (PLD3)	ENSP00000515112.1:n.*2539C>T
ENST00000700623.1:c.*2539C>T (PLD3)	ENSP00000515113.1:n.*2539C>T
ENST00000700624.1:c.*2539C>T (PLD3)	ENSP00000515114.2:n.*2539C>T
ENST00000700625.1:c.*2539C>T (PLD3)	ENSP00000515115.1:n.*2539C>T
ENST00000700626.1:c.*2539C>T (PLD3)	ENSP00000515116.1:n.*2539C>T
ENST00000700628.1:c.*2539C>T (PLD3)	ENSP00000515117.1:n.*2539C>T
ENST00000700630.1:c.*2539C>T (PLD3)	ENSP00000515118.1:n.*2539C>T
ENST00000700632.1:c.*386C>T (PLD3)	ENSP00000515120.1:n.*386C>T
ENST00000700633.1:c.*50+2489C>T (PLD3)	ENSP00000515121.1:n.*50+2489C>T
ENST00000700634.1:c.*50+2489C>T (PLD3)	ENSP00000515122.1:n.*50+2489C>T
ENST00000291823.3:c.1279G>A (HIPK4) MANE Select	ENSP00000291823.1:p.Asp427Asn
ENST00000291823.2:c.1279G>A (HIPK4)	ENSP00000291823.1:p.Asp427Asn
NM_144685.4:c.1279G>A (HIPK4)	NP_653286.2:p.Asp427Asn
XM_006723036.2:c.1279G>A (HIPK4)	XP_006723099.1:p.Asp427Asn
XM_006723036.3:c.1279G>A (HIPK4)	XP_006723099.1:p.Asp427Asn
NM_144685.5:c.1279G>A (HIPK4) MANE Select	NP_653286.2:p.Asp427Asn