Canonical Allele Identifier: CA10586323
Gene: DNAJB13 HGNC NCBI
MyVariant.info:
Revel Score:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.73969996T>G , CM000673.2:g.73969996T>G GRCh38
NC_000011.9:g.73681041T>G , CM000673.1:g.73681041T>G GRCh37
NC_000011.8:g.73358689T>G NCBI36
NG_053111.1:g.24678T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000339764.6:c.833T>G MANE Select ENSP00000344431.1:p.Met278Arg
ENST00000339764.5:c.833T>G ENSP00000344431.1:p.Met278Arg
ENST00000537753.5:c.308T>G ENSP00000439711.1:p.Met103Arg
ENST00000542350.5:c.534T>G
ENST00000543947.1:c.308T>G ENSP00000438576.1:p.Met103Arg
NM_153614.3:c.833T>G NP_705842.2:p.Met278Arg
XM_005273984.2:c.671T>G XP_005274041.1:p.Met224Arg
XM_011545004.1:c.935T>G XP_011543306.1:p.Met312Arg
XM_011545005.1:c.773T>G XP_011543307.1:p.Met258Arg
XM_011545006.1:c.659T>G XP_011543308.1:p.Met220Arg
XM_011545007.1:c.659T>G XP_011543309.1:p.Met220Arg
XM_011545008.1:c.659T>G XP_011543310.1:p.Met220Arg
XM_011545009.1:c.659T>G XP_011543311.1:p.Met220Arg
XM_011545010.1:c.659T>G XP_011543312.1:p.Met220Arg
XM_011545011.1:c.659T>G XP_011543313.1:p.Met220Arg
XM_011545012.1:c.659T>G XP_011543314.1:p.Met220Arg
XM_011545015.1:c.410T>G XP_011543317.1:p.Met137Arg
XR_949909.1:n.1502T>G
XM_005273984.3:c.671T>G XP_005274041.1:p.Met224Arg
XM_011545004.3:c.935T>G XP_011543306.1:p.Met312Arg
XM_011545005.2:c.773T>G XP_011543307.1:p.Met258Arg
XM_011545007.2:c.659T>G XP_011543309.1:p.Met220Arg
XM_011545009.3:c.659T>G XP_011543311.1:p.Met220Arg
XM_011545015.2:c.410T>G XP_011543317.1:p.Met137Arg
XM_017017675.1:c.659T>G XP_016873164.1:p.Met220Arg
XM_024448506.1:c.659T>G XP_024304274.1:p.Met220Arg
XM_024448507.1:c.659T>G XP_024304275.1:p.Met220Arg
XM_024448508.1:c.659T>G XP_024304276.1:p.Met220Arg
XM_024448509.1:c.659T>G XP_024304277.1:p.Met220Arg
XM_024448510.1:c.659T>G XP_024304278.1:p.Met220Arg
XR_949909.2:n.1930T>G
NM_001377263.1:c.659T>G NP_001364192.1:p.Met220Arg
NM_153614.4:c.833T>G MANE Select NP_705842.2:p.Met278Arg