Canonical Allele Identifier: CA367826501
Gene: DNAJC30 HGNC NCBI

Linked Data

gnomAD v4: 7-73682987-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682987C>G , CM000669.2:g.73682987C>G GRCh38
NC_000007.13:g.73097317C>G , CM000669.1:g.73097317C>G GRCh37
NC_000007.12:g.72735253C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.437G>C MANE Select ENSP00000378605.1:p.Arg146Pro
ENST00000395176.2:c.437G>C ENSP00000378605.1:p.Arg146Pro
NM_032317.2:c.437G>C NP_115693.2:p.Arg146Pro
NM_032317.3:c.437G>C MANE Select NP_115693.2:p.Arg146Pro