Canonical Allele Identifier: CA5038091

Gene: DNAJB5

Linked Data

• ClinVar Variation Id: 243086
• ClinVar RCV Id: RCV000235050 ; RCV001091820
• dbSNP Id: rs774909609
• ExAC: 9:34990670 C / T
• gnomAD v2: 9-34990670-C-T
• gnomAD v3: 9-34990673-C-T
• gnomAD v4: 9-34990673-C-T
• MyVariant Identifiers: chr9:g.34990670C>T (hg19) ; chr9:g.34990673C>T (hg38)
• PubMed: PMID:26257172

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34990673C>T , CM000671.2:g.34990673C>T	GRCh38
NC_000009.11:g.34990670C>T , CM000671.1:g.34990670C>T	GRCh37
NC_000009.10:g.34980670C>T	NCBI36
NG_053054.1:g.6305C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682809.1:c.43C>T MANE Select	ENSP00000507741.1:p.Pro15Ser
ENST00000684748.1:c.-88+62C>T	ENSP00000506753.1:n.-88+62C>T
ENST00000453597.8:c.-72C>T	ENSP00000404079.4:n.-72C>T
ENST00000312316.9:c.-35+842C>T	ENSP00000312517.5:n.-35+842C>T
ENST00000453597.7:c.169C>T	ENSP00000404079.3:p.Pro57Ser
ENST00000454002.6:c.43C>T	ENSP00000413684.2:p.Pro15Ser
ENST00000458263.6:c.-35+62C>T	ENSP00000393749.3:n.-35+62C>T
ENST00000469798.5:c.-35+842C>T	ENSP00000433640.2:n.-35+842C>T
ENST00000537321.5:c.-35+62C>T	ENSP00000439217.2:n.-35+62C>T
ENST00000541010.5:n.452C>T
ENST00000545841.5:c.-35+62C>T	ENSP00000441999.1:n.-35+62C>T
NM_001135004.2:c.169C>T	NP_001128476.2:p.Pro57Ser
NM_001135005.2:c.43C>T	NP_001128477.1:p.Pro15Ser
NM_012266.5:c.-35+842C>T	NP_036398.3:n.-35+842C>T
XM_006716751.2:c.-35+62C>T	XP_006716814.1:n.-35+62C>T
XM_011517842.1:c.43C>T	XP_011516144.1:p.Pro15Ser
NM_001349723.1:c.43C>T	NP_001336652.1:p.Pro15Ser
NM_001349724.1:c.-35+62C>T	NP_001336653.1:n.-35+62C>T
NM_001349725.1:c.166C>T	NP_001336654.1:p.Pro56Ser
NM_001135004.3:c.-72C>T	NP_001128476.3:n.-72C>T
NM_001135005.3:c.43C>T	NP_001128477.1:p.Pro15Ser
NM_001349723.2:c.43C>T	NP_001336652.1:p.Pro15Ser
NM_001349724.2:c.-35+62C>T	NP_001336653.1:n.-35+62C>T
NM_001349725.2:c.-72C>T	NP_001336654.2:n.-72C>T
NM_012266.6:c.-35+842C>T	NP_036398.3:n.-35+842C>T
NM_001349723.3:c.43C>T MANE Select	NP_001336652.1:p.Pro15Ser