Canonical Allele Identifier: CA2717134

Gene: DNAJC19

Linked Data

• ClinVar Variation Id: 514784
• ClinVar RCV Id: RCV000600074 ; RCV003497866
• dbSNP Id: rs367996239
• ExAC: 3:180705850 C / T
• gnomAD v2: 3-180705850-C-T
• gnomAD v3: 3-180988062-C-T
• gnomAD v4: 3-180988062-C-T
• MyVariant Identifiers: chr3:g.180705850C>T (hg19) ; chr3:g.180988062C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180988062C>T , CM000665.2:g.180988062C>T	GRCh38
NC_000003.11:g.180705850C>T , CM000665.1:g.180705850C>T	GRCh37
NC_000003.10:g.182188544C>T	NCBI36
NG_022933.1:g.6713G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478723.6:n.161G>A
ENST00000482363.2:n.257G>A
ENST00000485675.2:n.251G>A
ENST00000688055.1:c.90G>A	ENSP00000508688.1:p.Glu30=
ENST00000382564.8:c.90G>A MANE Select	ENSP00000372005.2:p.Glu30=
ENST00000643241.1:c.15G>A	ENSP00000496401.1:p.Glu5=
ENST00000646965.1:c.-47+1538G>A	ENSP00000496456.1:n.-47+1538G>A
ENST00000382564.6:c.90G>A	ENSP00000372005.2:p.Glu30=
ENST00000469657.5:c.90G>A	ENSP00000418058.1:p.Glu30=
ENST00000472504.1:n.343G>A
ENST00000478723.5:n.229G>A
ENST00000479269.5:c.15G>A	ENSP00000419191.1:p.Glu5=
ENST00000482363.1:n.251G>A
ENST00000485675.1:n.163G>A
ENST00000486355.1:c.90G>A	ENSP00000419991.1:p.Glu30=
ENST00000491873.5:c.15G>A	ENSP00000420767.1:p.Glu5=
NM_001190233.1:c.15G>A	NP_001177162.1:p.Glu5=
NM_145261.3:c.90G>A	NP_660304.1:p.Glu30=
NR_033721.1:n.210G>A
NR_033722.1:n.262G>A
NR_033723.1:n.262G>A
NR_046073.1:n.175+1538G>A
NM_145261.4:c.90G>A MANE Select	NP_660304.1:p.Glu30=
NM_001190233.2:c.15G>A	NP_001177162.1:p.Glu5=
NR_033721.2:n.172G>A
NR_033722.2:n.224G>A