Canonical Allele Identifier: CA367826444
Gene: DNAJC30 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682979C>G , CM000669.2:g.73682979C>G GRCh38
NC_000007.13:g.73097309C>G , CM000669.1:g.73097309C>G GRCh37
NC_000007.12:g.72735245C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.445G>C MANE Select ENSP00000378605.1:p.Asp149His
ENST00000395176.2:c.445G>C ENSP00000378605.1:p.Asp149His
NM_032317.2:c.445G>C NP_115693.2:p.Asp149His
NM_032317.3:c.445G>C MANE Select NP_115693.2:p.Asp149His