Canonical Allele Identifier: CA367826540
Gene: DNAJC30 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682993G>A , CM000669.2:g.73682993G>A GRCh38
NC_000007.13:g.73097323G>A , CM000669.1:g.73097323G>A GRCh37
NC_000007.12:g.72735259G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.431C>T MANE Select ENSP00000378605.1:p.Thr144Ile
ENST00000395176.2:c.431C>T ENSP00000378605.1:p.Thr144Ile
NM_032317.2:c.431C>T NP_115693.2:p.Thr144Ile
NM_032317.3:c.431C>T MANE Select NP_115693.2:p.Thr144Ile