Canonical Allele Identifier: CA10007531
Gene: DNAJC28 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.33489354A>C
GRCh37 chr21:g.34861661A>C
Revel Score:
ENST00000381947 (MANE Select) 0.100
ENST00000314399 0.100
ENST00000402202 0.100
gnomAD v2:
21:34861661 A / C
gnomAD v3:
21:33489354 A / C
gnomAD v4:
chr21-33489354-A-C
Joint Max Group AF 0.00017159 (AFR)
Genomes Max Group AF 0.00020415 (AFR)
Exomes Max Group AF 0.00006355 (AFR)
ClinVar RCV:
RCV004092273
ClinVar Variation:
2233989
dbSNP:
144175665
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.33489354A>C , CM000683.2:g.33489354A>C GRCh38
NC_000021.8:g.34861661A>C , CM000683.1:g.34861661A>C GRCh37
NC_000021.7:g.33783531A>C NCBI36
NG_051991.1:g.7370T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381947.4:c.40T>G MANE Select ENSP00000371373.3:p.Ser14Ala
ENST00000314399.3:c.40T>G ENSP00000320303.3:p.Ser14Ala
ENST00000381947.3:c.40T>G ENSP00000371373.3:p.Ser14Ala
ENST00000402202.1:c.40T>G ENSP00000385777.1:p.Ser14Ala
ENST00000617313.4:c.40T>G ENSP00000479716.1:p.Ser14Ala
NM_001040192.2:c.40T>G NP_001035282.1:p.Ser14Ala
NM_017833.4:c.40T>G NP_060303.2:p.Ser14Ala
XM_006724027.2:c.40T>G XP_006724090.1:p.Ser14Ala
NM_001320746.2:c.40T>G NP_001307675.1:p.Ser14Ala
NM_001040192.3:c.40T>G MANE Select NP_001035282.1:p.Ser14Ala
NM_001320746.3:c.40T>G NP_001307675.1:p.Ser14Ala
NM_017833.5:c.40T>G NP_060303.2:p.Ser14Ala
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