Canonical Allele Identifier: CA367826573
Gene: DNAJC30 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682997G>T , CM000669.2:g.73682997G>T GRCh38
NC_000007.13:g.73097327G>T , CM000669.1:g.73097327G>T GRCh37
NC_000007.12:g.72735263G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.427C>A MANE Select ENSP00000378605.1:p.Pro143Thr
ENST00000395176.2:c.427C>A ENSP00000378605.1:p.Pro143Thr
NM_032317.2:c.427C>A NP_115693.2:p.Pro143Thr
NM_032317.3:c.427C>A MANE Select NP_115693.2:p.Pro143Thr