Canonical Allele Identifier: CA9969802
Gene: DNAJC5 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.63931495C>T
GRCh37 chr20:g.62562848C>T
Revel Score:
ENST00000360864 (MANE Select) 0.705
gnomAD v2:
20:62562848 C / T
gnomAD v3:
20:63931495 C / T
gnomAD v4:
chr20-63931495-C-T
Joint Max Group AF 0.00020511 (NFE)
Genomes Max Group AF 0.0000693 (NFE)
Exomes Max Group AF 0.00021038 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63931495C>T , CM000682.2:g.63931495C>T GRCh38
NC_000020.10:g.62562848C>T , CM000682.1:g.62562848C>T GRCh37
NC_000020.9:g.62033292C>T NCBI36
NG_029805.1:g.41394C>T
NG_029805.2:g.41394C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703637.1:c.*94C>T ENSP00000515413.1:n.*94C>T
ENST00000360864.9:c.524C>T MANE Select ENSP00000354111.4:p.Pro175Leu
ENST00000360864.8:c.524C>T ENSP00000354111.4:p.Pro175Leu
ENST00000470551.1:c.*94C>T ENSP00000434744.1:n.*94C>T
NM_025219.2:c.524C>T NP_079495.1:p.Pro175Leu
XM_011529048.1:c.524C>T XP_011527350.1:p.Pro175Leu
XM_011529049.1:c.524C>T XP_011527351.1:p.Pro175Leu
XM_011529050.1:c.524C>T XP_011527352.1:p.Pro175Leu
XR_936629.1:n.1230C>T
XR_936630.1:n.1488C>T
XM_011529048.2:c.524C>T XP_011527350.1:p.Pro175Leu
XR_936629.2:n.1243C>T
NM_025219.3:c.524C>T MANE Select NP_079495.1:p.Pro175Leu
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