Canonical Allele Identifier: CA367826587
Gene: DNAJC30 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682999G>T , CM000669.2:g.73682999G>T GRCh38
NC_000007.13:g.73097329G>T , CM000669.1:g.73097329G>T GRCh37
NC_000007.12:g.72735265G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.425C>A MANE Select ENSP00000378605.1:p.Pro142Gln
ENST00000395176.2:c.425C>A ENSP00000378605.1:p.Pro142Gln
NM_032317.2:c.425C>A NP_115693.2:p.Pro142Gln
NM_032317.3:c.425C>A MANE Select NP_115693.2:p.Pro142Gln