Canonical Allele Identifier: CA267392379

Gene: PLD4

Linked Data

• dbSNP Id: rs948733363
• gnomAD v2: 14-105392549-G-C
• gnomAD v3: 14-104926212-G-C
• gnomAD v4: 14-104926212-G-C
• MyVariant Identifiers: chr14:g.105392549G>C (hg19) ; chr14:g.104926212G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104926212G>C , CM000676.2:g.104926212G>C	GRCh38
NC_000014.8:g.105392549G>C , CM000676.1:g.105392549G>C	GRCh37
NC_000014.7:g.104463594G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392593.9:c.1-929G>C MANE Select	ENSP00000376372.5:n.1-929G>C
ENST00000649344.1:c.1-929G>C	ENSP00000497627.1:n.1-929G>C
ENST00000392593.8:c.1-929G>C	ENSP00000376372.4:n.1-929G>C
ENST00000472901.1:n.112-929G>C
ENST00000540372.5:c.-17-891G>C	ENSP00000438677.1:n.-17-891G>C
ENST00000557573.1:c.1-929G>C	ENSP00000451278.1:n.1-929G>C
NM_001308174.1:c.-17-891G>C	NP_001295103.1:n.-17-891G>C
NM_138790.2:c.1-929G>C	NP_620145.2:n.1-929G>C
NM_138790.3:c.1-929G>C	NP_620145.2:n.1-929G>C
XM_011536411.1:c.-17-891G>C	XP_011534713.1:n.-17-891G>C
XM_011536411.2:c.-17-891G>C	XP_011534713.1:n.-17-891G>C
XM_017020965.1:c.1-929G>C	XP_016876454.1:n.1-929G>C
XM_024449469.1:c.-17-891G>C	XP_024305237.1:n.-17-891G>C
XM_024449470.1:c.1-929G>C	XP_024305238.1:n.1-929G>C
NM_001308174.2:c.-17-891G>C	NP_001295103.1:n.-17-891G>C
NM_138790.5:c.1-929G>C MANE Select	NP_620145.2:n.1-929G>C