Canonical Allele Identifier: CA367826360
Gene: DNAJC30 HGNC NCBI

Linked Data

gnomAD v4: 7-73682969-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682969C>T , CM000669.2:g.73682969C>T GRCh38
NC_000007.13:g.73097299C>T , CM000669.1:g.73097299C>T GRCh37
NC_000007.12:g.72735235C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.455G>A MANE Select ENSP00000378605.1:p.Arg152Gln
ENST00000395176.2:c.455G>A ENSP00000378605.1:p.Arg152Gln
NM_032317.2:c.455G>A NP_115693.2:p.Arg152Gln
NM_032317.3:c.455G>A MANE Select NP_115693.2:p.Arg152Gln