Canonical Allele Identifier: CA10618126

Gene: DNAJC19

Linked Data

• ClinVar Variation Id: 344290
• ClinVar RCV Id: RCV000358155
• dbSNP Id: rs576646391
• gnomAD v2: 3-180701940-C-G
• gnomAD v3: 3-180984152-C-G
• gnomAD v4: 3-180984152-C-G
• MyVariant Identifiers: chr3:g.180701940C>G (hg19) ; chr3:g.180984152C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180984152C>G , CM000665.2:g.180984152C>G	GRCh38
NC_000003.11:g.180701940C>G , CM000665.1:g.180701940C>G	GRCh37
NC_000003.10:g.182184634C>G	NCBI36
NG_022933.1:g.10623G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000482363.2:n.2952G>C
ENST00000688055.1:c.*1766G>C	ENSP00000508688.1:n.*1766G>C
ENST00000382564.8:c.*488G>C MANE Select	ENSP00000372005.2:n.*488G>C
ENST00000382564.6:c.*488G>C	ENSP00000372005.2:n.*488G>C
ENST00000469657.5:c.*615G>C	ENSP00000418058.1:n.*615G>C
NM_001190233.1:c.*488G>C	NP_001177162.1:n.*488G>C
NM_145261.3:c.*488G>C	NP_660304.1:n.*488G>C
NR_033721.1:n.959G>C
NR_033722.1:n.931G>C
NR_033723.1:n.956G>C
NR_046073.1:n.805G>C
NM_145261.4:c.*488G>C MANE Select	NP_660304.1:n.*488G>C
NM_001190233.2:c.*488G>C	NP_001177162.1:n.*488G>C
NR_033721.2:n.921G>C
NR_033722.2:n.893G>C