Canonical Allele Identifier: CA367826678
Gene: DNAJC30 HGNC NCBI

Linked Data

gnomAD v4: 7-73683020-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683020G>T , CM000669.2:g.73683020G>T GRCh38
NC_000007.13:g.73097350G>T , CM000669.1:g.73097350G>T GRCh37
NC_000007.12:g.72735286G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.404C>A MANE Select ENSP00000378605.1:p.Pro135His
ENST00000395176.2:c.404C>A ENSP00000378605.1:p.Pro135His
NM_032317.2:c.404C>A NP_115693.2:p.Pro135His
NM_032317.3:c.404C>A MANE Select NP_115693.2:p.Pro135His