Canonical Allele Identifier: CA4289923
Gene: DNAJC30 HGNC NCBI

Linked Data

dbSNP Id: rs782206269
gnomAD v2: 7-73097336-T-G
gnomAD v4: 7-73683006-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683006T>G , CM000669.2:g.73683006T>G GRCh38
NC_000007.13:g.73097336T>G , CM000669.1:g.73097336T>G GRCh37
NC_000007.12:g.72735272T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.418A>C MANE Select ENSP00000378605.1:p.Thr140Pro
ENST00000395176.2:c.418A>C ENSP00000378605.1:p.Thr140Pro
NM_032317.2:c.418A>C NP_115693.2:p.Thr140Pro
NM_032317.3:c.418A>C MANE Select NP_115693.2:p.Thr140Pro