Canonical Allele Identifier: CA2578906492
Gene: DNAJC30 HGNC NCBI

Linked Data

gnomAD v4: 7-73683018-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683022dup , CM000669.2:g.73683022dup GRCh38
NC_000007.13:g.73097352dup , CM000669.1:g.73097352dup GRCh37
NC_000007.12:g.72735288dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.405dup MANE Select ENSP00000378605.1:p.Gly136ArgfsTer30
ENST00000395176.2:c.405dup ENSP00000378605.1:p.Gly136ArgfsTer30
NM_032317.2:c.405dup NP_115693.2:p.Gly136ArgfsTer30
NM_032317.3:c.405dup MANE Select NP_115693.2:p.Gly136ArgfsTer30
Search 100 bp 5'
Search 100 bp 3'