Canonical Allele Identifier: CA367826663
Gene: DNAJC30 HGNC NCBI

Linked Data

gnomAD v4: 7-73683017-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683017C>A , CM000669.2:g.73683017C>A GRCh38
NC_000007.13:g.73097347C>A , CM000669.1:g.73097347C>A GRCh37
NC_000007.12:g.72735283C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.407G>T MANE Select ENSP00000378605.1:p.Gly136Val
ENST00000395176.2:c.407G>T ENSP00000378605.1:p.Gly136Val
NM_032317.2:c.407G>T NP_115693.2:p.Gly136Val
NM_032317.3:c.407G>T MANE Select NP_115693.2:p.Gly136Val