Canonical Allele Identifier: CA2580069110

Gene: DNAJC19

Linked Data

• ClinVar Variation Id: 1927218
• ClinVar RCV Id: RCV002631060
• gnomAD v4: 3-180986924-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180986924A>G , CM000665.2:g.180986924A>G	GRCh38
NC_000003.11:g.180704712A>G , CM000665.1:g.180704712A>G	GRCh37
NC_000003.10:g.182187406A>G	NCBI36
NG_022933.1:g.7851T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478723.6:n.280+19T>C
ENST00000482363.2:n.1395T>C
ENST00000485675.2:n.1389T>C
ENST00000688055.1:c.209+19T>C	ENSP00000508688.1:n.209+19T>C
ENST00000382564.8:c.209+19T>C MANE Select	ENSP00000372005.2:n.209+19T>C
ENST00000643241.1:c.129+24T>C	ENSP00000496401.1:n.129+24T>C
ENST00000646965.1:c.-46-928T>C	ENSP00000496456.1:n.-46-928T>C
ENST00000382564.6:c.209+19T>C	ENSP00000372005.2:n.209+19T>C
ENST00000469657.5:c.130-928T>C	ENSP00000418058.1:n.130-928T>C
ENST00000478723.5:n.348+19T>C
ENST00000479269.5:c.134+19T>C	ENSP00000419191.1:n.134+19T>C
ENST00000485675.1:n.1301T>C
ENST00000486355.1:c.154+74T>C	ENSP00000419991.1:n.154+74T>C
ENST00000491873.5:c.134+19T>C	ENSP00000420767.1:n.134+19T>C
NM_001190233.1:c.134+19T>C	NP_001177162.1:n.134+19T>C
NM_145261.3:c.209+19T>C	NP_660304.1:n.209+19T>C
NR_033721.1:n.329+19T>C
NR_033722.1:n.302-928T>C
NR_033723.1:n.326+74T>C
NR_046073.1:n.176-928T>C
NM_145261.4:c.209+19T>C MANE Select	NP_660304.1:n.209+19T>C
NM_001190233.2:c.134+19T>C	NP_001177162.1:n.134+19T>C
NR_033721.2:n.291+19T>C
NR_033722.2:n.264-928T>C