Canonical Allele Identifier: CA3228645

Gene: DNAJC21

Linked Data

• ClinVar Variation Id: 222066
• ClinVar RCV Id: RCV000235793 ; RCV000784914 ; RCV001818506 ; RCV002247638
• dbSNP Id: rs368148362
• ExAC: 5:34941289 G / A
• gnomAD v2: 5-34941289-G-A
• gnomAD v3: 5-34941184-G-A
• gnomAD v4: 5-34941184-G-A
• MyVariant Identifiers: chr5:g.34941289G>A (hg19) ; chr5:g.34941184G>A (hg38)
• PubMed: PMID:27346687

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34941184G>A , CM000667.2:g.34941184G>A	GRCh38
NC_000005.9:g.34941289G>A , CM000667.1:g.34941289G>A	GRCh37
NC_000005.8:g.34977046G>A	NCBI36
NG_052822.1:g.16645G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000506762.2:c.635+1G>A	ENSP00000513864.1:n.635+1G>A
ENST00000512136.2:n.1210+1G>A
ENST00000644357.2:c.635+1G>A	ENSP00000493850.2:n.635+1G>A
ENST00000698657.1:n.1141+1G>A
ENST00000698658.1:n.1141+1G>A
ENST00000698659.1:n.293+1G>A
ENST00000514237.6:n.608+1G>A
ENST00000642285.1:c.635+1G>A	ENSP00000493883.1:n.635+1G>A
ENST00000642675.1:c.635+1G>A	ENSP00000494173.1:n.635+1G>A
ENST00000642851.1:c.983+1G>A	ENSP00000496545.1:n.983+1G>A
ENST00000644357.1:c.635+1G>A	ENSP00000493850.1:n.635+1G>A
ENST00000646714.1:c.*361+1G>A	ENSP00000495883.1:n.*361+1G>A
ENST00000648817.1:c.983+1G>A MANE Select	ENSP00000497410.1:n.983+1G>A
ENST00000342382.8:c.983+1G>A	ENSP00000343728.4:n.983+1G>A
ENST00000382021.2:c.983+1G>A	ENSP00000371451.2:n.983+1G>A
ENST00000514237.5:n.608+1G>A
NM_001012339.2:c.983+1G>A	NP_001012339.2:n.983+1G>A
NM_194283.3:c.983+1G>A	NP_919259.3:n.983+1G>A
XM_005248249.3:c.983+1G>A	XP_005248306.1:n.983+1G>A
XM_005248250.2:c.983+1G>A	XP_005248307.1:n.983+1G>A
XM_011513965.1:c.983+1G>A	XP_011512267.1:n.983+1G>A
XM_011513966.1:c.983+1G>A	XP_011512268.1:n.983+1G>A
NM_001012339.3:c.983+1G>A MANE Select	NP_001012339.2:n.983+1G>A
NM_001348420.1:c.983+1G>A	NP_001335349.1:n.983+1G>A
XM_005248250.3:c.1244+1G>A	XP_005248307.2:n.1244+1G>A
XM_011513965.2:c.1244+1G>A	XP_011512267.2:n.1244+1G>A
XM_011513966.2:c.1244+1G>A	XP_011512268.2:n.1244+1G>A
NM_001348420.2:c.983+1G>A	NP_001335349.1:n.983+1G>A
NM_194283.4:c.983+1G>A	NP_919259.3:n.983+1G>A