Canonical Allele Identifier: CA367826688
Gene: DNAJC30 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.402C>A MANE Select ENSP00000378605.1:p.Asp134Glu
ENST00000395176.2:c.402C>A ENSP00000378605.1:p.Asp134Glu
NM_032317.2:c.402C>A NP_115693.2:p.Asp134Glu
NM_032317.3:c.402C>A MANE Select NP_115693.2:p.Asp134Glu