Canonical Allele Identifier: CA367826527
Gene: DNAJC30 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.433T>G MANE Select ENSP00000378605.1:p.Ser145Ala
ENST00000395176.2:c.433T>G ENSP00000378605.1:p.Ser145Ala
NM_032317.2:c.433T>G NP_115693.2:p.Ser145Ala
NM_032317.3:c.433T>G MANE Select NP_115693.2:p.Ser145Ala