Canonical Allele Identifier: CA1717166254
Gene: DNAJC30 HGNC NCBI

Linked Data

dbSNP Id: rs1797763726

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682994_73682997dup , CM000669.2:g.73682994_73682997dup GRCh38
NC_000007.13:g.73097324_73097327dup , CM000669.1:g.73097324_73097327dup GRCh37
NC_000007.12:g.72735260_72735263dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.429_432dup MANE Select ENSP00000378605.1:p.Ser145HisfsTer22
ENST00000395176.2:c.429_432dup ENSP00000378605.1:p.Ser145HisfsTer22
NM_032317.2:c.429_432dup NP_115693.2:p.Ser145HisfsTer22
NM_032317.3:c.429_432dup MANE Select NP_115693.2:p.Ser145HisfsTer22