Canonical Allele Identifier: CA367826528
Gene: DNAJC30 HGNC NCBI

Linked Data

gnomAD v4: 7-73682991-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682991A>T , CM000669.2:g.73682991A>T GRCh38
NC_000007.13:g.73097321A>T , CM000669.1:g.73097321A>T GRCh37
NC_000007.12:g.72735257A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.433T>A MANE Select ENSP00000378605.1:p.Ser145Thr
ENST00000395176.2:c.433T>A ENSP00000378605.1:p.Ser145Thr
NM_032317.2:c.433T>A NP_115693.2:p.Ser145Thr
NM_032317.3:c.433T>A MANE Select NP_115693.2:p.Ser145Thr