Canonical Allele Identifier: CA3228375

Gene: DNAJC21

Linked Data

• ClinVar Variation Id: 1425044
• ClinVar RCV Id: RCV001924229
• dbSNP Id: rs778723001
• ExAC: 5:34935837 C / G
• gnomAD v2: 5-34935837-C-G
• gnomAD v3: 5-34935732-C-G
• gnomAD v4: 5-34935732-C-G
• MyVariant Identifiers: chr5:g.34935837C>G (hg19) ; chr5:g.34935732C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34935732C>G , CM000667.2:g.34935732C>G	GRCh38
NC_000005.9:g.34935837C>G , CM000667.1:g.34935837C>G	GRCh37
NC_000005.8:g.34971594C>G	NCBI36
NG_052822.1:g.11193C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506762.2:c.-135C>G	ENSP00000513864.1:n.-135C>G
ENST00000512136.2:n.441C>G
ENST00000644357.2:c.-135C>G	ENSP00000493850.2:n.-135C>G
ENST00000698657.1:n.372C>G
ENST00000698658.1:n.372C>G
ENST00000642285.1:c.-135C>G	ENSP00000493883.1:n.-135C>G
ENST00000642675.1:c.-135C>G	ENSP00000494173.1:n.-135C>G
ENST00000642851.1:c.214C>G	ENSP00000496545.1:p.Leu72Val
ENST00000644357.1:c.-135C>G	ENSP00000493850.1:n.-135C>G
ENST00000646714.1:c.-135C>G	ENSP00000495883.1:n.-135C>G
ENST00000648817.1:c.214C>G MANE Select	ENSP00000497410.1:p.Leu72Val
ENST00000342382.8:c.214C>G	ENSP00000343728.4:p.Leu72Val
ENST00000382021.2:c.214C>G	ENSP00000371451.2:p.Leu72Val
NM_001012339.2:c.214C>G	NP_001012339.2:p.Leu72Val
NM_194283.3:c.214C>G	NP_919259.3:p.Leu72Val
XM_005248249.3:c.214C>G	XP_005248306.1:p.Leu72Val
XM_005248250.2:c.214C>G	XP_005248307.1:p.Leu72Val
XM_011513965.1:c.214C>G	XP_011512267.1:p.Leu72Val
XM_011513966.1:c.214C>G	XP_011512268.1:p.Leu72Val
NM_001012339.3:c.214C>G MANE Select	NP_001012339.2:p.Leu72Val
NM_001348420.1:c.214C>G	NP_001335349.1:p.Leu72Val
XM_005248250.3:c.475C>G	XP_005248307.2:p.Leu159Val
XM_011513965.2:c.475C>G	XP_011512267.2:p.Leu159Val
XM_011513966.2:c.475C>G	XP_011512268.2:p.Leu159Val
NM_001348420.2:c.214C>G	NP_001335349.1:p.Leu72Val
NM_194283.4:c.214C>G	NP_919259.3:p.Leu72Val