Canonical Allele Identifier: CA367826496
Gene: DNAJC30 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682985T>G , CM000669.2:g.73682985T>G GRCh38
NC_000007.13:g.73097315T>G , CM000669.1:g.73097315T>G GRCh37
NC_000007.12:g.72735251T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.439A>C MANE Select ENSP00000378605.1:p.Thr147Pro
ENST00000395176.2:c.439A>C ENSP00000378605.1:p.Thr147Pro
NM_032317.2:c.439A>C NP_115693.2:p.Thr147Pro
NM_032317.3:c.439A>C MANE Select NP_115693.2:p.Thr147Pro