Canonical Allele Identifier: CA355472543

Gene: DNAJC19

Linked Data

• ClinVar Variation Id: 2189633
• ClinVar RCV Id: RCV002611704
• MyVariant Identifiers: chr3:g.180704795A>G (hg19) ; chr3:g.180987007A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180987007A>G , CM000665.2:g.180987007A>G	GRCh38
NC_000003.11:g.180704795A>G , CM000665.1:g.180704795A>G	GRCh37
NC_000003.10:g.182187489A>G	NCBI36
NG_022933.1:g.7768T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478723.6:n.216T>C
ENST00000482363.2:n.1312T>C
ENST00000485675.2:n.1306T>C
ENST00000688055.1:c.145T>C	ENSP00000508688.1:p.Tyr49His
ENST00000382564.8:c.145T>C MANE Select	ENSP00000372005.2:p.Tyr49His
ENST00000643241.1:c.70T>C	ENSP00000496401.1:p.Tyr24His
ENST00000646965.1:c.-46-1011T>C	ENSP00000496456.1:n.-46-1011T>C
ENST00000382564.6:c.145T>C	ENSP00000372005.2:p.Tyr49His
ENST00000469657.5:c.130-1011T>C	ENSP00000418058.1:n.130-1011T>C
ENST00000478723.5:n.284T>C
ENST00000479269.5:c.70T>C	ENSP00000419191.1:p.Tyr24His
ENST00000485675.1:n.1218T>C
ENST00000486355.1:c.145T>C	ENSP00000419991.1:p.Tyr49His
ENST00000491873.5:c.70T>C	ENSP00000420767.1:p.Tyr24His
NM_001190233.1:c.70T>C	NP_001177162.1:p.Tyr24His
NM_145261.3:c.145T>C	NP_660304.1:p.Tyr49His
NR_033721.1:n.265T>C
NR_033722.1:n.302-1011T>C
NR_033723.1:n.317T>C
NR_046073.1:n.176-1011T>C
NM_145261.4:c.145T>C MANE Select	NP_660304.1:p.Tyr49His
NM_001190233.2:c.70T>C	NP_001177162.1:p.Tyr24His
NR_033721.2:n.227T>C
NR_033722.2:n.264-1011T>C