Canonical Allele Identifier: CA10653409
Gene: DNAJC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 339413
ClinVar RCV Id: RCV000300201 RCV001143710 RCV003430867
dbSNP Id: rs55665472
gnomAD v2: 20-62565711-C-T
gnomAD v3: 20-63934358-C-T
gnomAD v4: 20-63934358-C-T
MyVariant Identifiers: chr20:g.62565711C>T (hg19) chr20:g.63934358C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63934358C>T , CM000682.2:g.63934358C>T GRCh38
NC_000020.10:g.62565711C>T , CM000682.1:g.62565711C>T GRCh37
NC_000020.9:g.62036155C>T NCBI36
NG_029805.1:g.44257C>T
NG_029805.2:g.44257C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360864.9:c.*2790C>T MANE Select ENSP00000354111.4:n.*2790C>T
ENST00000360864.8:c.*2790C>T ENSP00000354111.4:n.*2790C>T
ENST00000470551.1:c.*2957C>T ENSP00000434744.1:n.*2957C>T
NM_025219.2:c.*2790C>T NP_079495.1:n.*2790C>T
XM_011529048.1:c.*2790C>T XP_011527350.1:n.*2790C>T
XM_011529049.1:c.*2790C>T XP_011527351.1:n.*2790C>T
XM_011529050.1:c.*2790C>T XP_011527352.1:n.*2790C>T
XR_936629.1:n.4093C>T
XR_936630.1:n.4351C>T
XM_011529048.2:c.*2790C>T XP_011527350.1:n.*2790C>T
XR_936629.2:n.4106C>T
NM_025219.3:c.*2790C>T MANE Select NP_079495.1:n.*2790C>T
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