Canonical Allele Identifier: CA10575853

Gene: DNAJC21

Linked Data

• ClinVar Variation Id: 222064
• ClinVar RCV Id: RCV000239500 ; RCV000236259
• dbSNP Id: rs150576702
• gnomAD v2: 5-34937509-C-T
• gnomAD v3: 5-34937404-C-T
• gnomAD v4: 5-34937404-C-T
• COSMIC: COSM2686791 ; COSM2686792
• MyVariant Identifiers: chr5:g.34937509C>T (hg19) ; chr5:g.34937404C>T (hg38)
• PubMed: PMID:27346687

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34937404C>T , CM000667.2:g.34937404C>T	GRCh38
NC_000005.9:g.34937509C>T , CM000667.1:g.34937509C>T	GRCh37
NC_000005.8:g.34973266C>T	NCBI36
NG_052822.1:g.12865C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506762.2:c.169C>T	ENSP00000513864.1:p.Arg57Ter
ENST00000512136.2:n.744C>T
ENST00000644357.2:c.169C>T	ENSP00000493850.2:p.Arg57Ter
ENST00000698657.1:n.675C>T
ENST00000698658.1:n.675C>T
ENST00000514237.6:n.142C>T
ENST00000642285.1:c.169C>T	ENSP00000493883.1:p.Arg57Ter
ENST00000642675.1:c.169C>T	ENSP00000494173.1:p.Arg57Ter
ENST00000642851.1:c.517C>T	ENSP00000496545.1:p.Arg173Ter
ENST00000644357.1:c.169C>T	ENSP00000493850.1:p.Arg57Ter
ENST00000646714.1:c.165C>T	ENSP00000495883.1:p.His55=
ENST00000648817.1:c.517C>T MANE Select	ENSP00000497410.1:p.Arg173Ter
ENST00000342382.8:c.517C>T	ENSP00000343728.4:p.Arg173Ter
ENST00000382021.2:c.517C>T	ENSP00000371451.2:p.Arg173Ter
ENST00000514237.5:n.142C>T
NM_001012339.2:c.517C>T	NP_001012339.2:p.Arg173Ter
NM_194283.3:c.517C>T	NP_919259.3:p.Arg173Ter
XM_005248249.3:c.517C>T	XP_005248306.1:p.Arg173Ter
XM_005248250.2:c.517C>T	XP_005248307.1:p.Arg173Ter
XM_011513965.1:c.517C>T	XP_011512267.1:p.Arg173Ter
XM_011513966.1:c.517C>T	XP_011512268.1:p.Arg173Ter
NM_001012339.3:c.517C>T MANE Select	NP_001012339.2:p.Arg173Ter
NM_001348420.1:c.517C>T	NP_001335349.1:p.Arg173Ter
XM_005248250.3:c.778C>T	XP_005248307.2:p.Arg260Ter
XM_011513965.2:c.778C>T	XP_011512267.2:p.Arg260Ter
XM_011513966.2:c.778C>T	XP_011512268.2:p.Arg260Ter
NM_001348420.2:c.517C>T	NP_001335349.1:p.Arg173Ter
NM_194283.4:c.517C>T	NP_919259.3:p.Arg173Ter