Canonical Allele Identifier: CA456052812
Gene: DNAJC30 HGNC NCBI

Linked Data

dbSNP Id: rs370999532
gnomAD v4: 7-73682992-G-T
MyVariant Identifiers: chr7:g.73097322G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682992G>T , CM000669.2:g.73682992G>T GRCh38
NC_000007.13:g.73097322G>T , CM000669.1:g.73097322G>T GRCh37
NC_000007.12:g.72735258G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.432C>A MANE Select ENSP00000378605.1:p.Thr144=
ENST00000395176.2:c.432C>A ENSP00000378605.1:p.Thr144=
NM_032317.2:c.432C>A NP_115693.2:p.Thr144=
NM_032317.3:c.432C>A MANE Select NP_115693.2:p.Thr144=