Canonical Allele Identifier: CA2717114

Gene: DNAJC19

Linked Data

• ClinVar Variation Id: 2153014
• ClinVar RCV Id: RCV003077395
• dbSNP Id: rs771851624
• ExAC: 3:180704814 A / G
• gnomAD v2: 3-180704814-A-G
• gnomAD v4: 3-180987026-A-G
• MyVariant Identifiers: chr3:g.180704814A>G (hg19) ; chr3:g.180987026A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180987026A>G , CM000665.2:g.180987026A>G	GRCh38
NC_000003.11:g.180704814A>G , CM000665.1:g.180704814A>G	GRCh37
NC_000003.10:g.182187508A>G	NCBI36
NG_022933.1:g.7749T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478723.6:n.201-4T>C
ENST00000482363.2:n.1293T>C
ENST00000485675.2:n.1287T>C
ENST00000688055.1:c.130-4T>C	ENSP00000508688.1:n.130-4T>C
ENST00000382564.8:c.130-4T>C MANE Select	ENSP00000372005.2:n.130-4T>C
ENST00000643241.1:c.55-4T>C	ENSP00000496401.1:n.55-4T>C
ENST00000646965.1:c.-46-1030T>C	ENSP00000496456.1:n.-46-1030T>C
ENST00000382564.6:c.130-4T>C	ENSP00000372005.2:n.130-4T>C
ENST00000469657.5:c.129+997T>C	ENSP00000418058.1:n.129+997T>C
ENST00000478723.5:n.269-4T>C
ENST00000479269.5:c.55-4T>C	ENSP00000419191.1:n.55-4T>C
ENST00000485675.1:n.1199T>C
ENST00000486355.1:c.130-4T>C	ENSP00000419991.1:n.130-4T>C
ENST00000491873.5:c.55-4T>C	ENSP00000420767.1:n.55-4T>C
NM_001190233.1:c.55-4T>C	NP_001177162.1:n.55-4T>C
NM_145261.3:c.130-4T>C	NP_660304.1:n.130-4T>C
NR_033721.1:n.250-4T>C
NR_033722.1:n.301+997T>C
NR_033723.1:n.302-4T>C
NR_046073.1:n.176-1030T>C
NM_145261.4:c.130-4T>C MANE Select	NP_660304.1:n.130-4T>C
NM_001190233.2:c.55-4T>C	NP_001177162.1:n.55-4T>C
NR_033721.2:n.212-4T>C
NR_033722.2:n.263+997T>C