Canonical Allele Identifier: CA456052835
Gene: DNAJC30 HGNC NCBI

Linked Data

dbSNP Id: rs1797764484
gnomAD v4: 7-73683004-G-C
MyVariant Identifiers: chr7:g.73097334G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683004G>C , CM000669.2:g.73683004G>C GRCh38
NC_000007.13:g.73097334G>C , CM000669.1:g.73097334G>C GRCh37
NC_000007.12:g.72735270G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.420C>G MANE Select ENSP00000378605.1:p.Thr140=
ENST00000395176.2:c.420C>G ENSP00000378605.1:p.Thr140=
NM_032317.2:c.420C>G NP_115693.2:p.Thr140=
NM_032317.3:c.420C>G MANE Select NP_115693.2:p.Thr140=