Canonical Allele Identifier: CA367826483
Gene: DNAJC30 HGNC NCBI

Linked Data

gnomAD v4: 7-73682984-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682984G>C , CM000669.2:g.73682984G>C GRCh38
NC_000007.13:g.73097314G>C , CM000669.1:g.73097314G>C GRCh37
NC_000007.12:g.72735250G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.440C>G MANE Select ENSP00000378605.1:p.Thr147Ser
ENST00000395176.2:c.440C>G ENSP00000378605.1:p.Thr147Ser
NM_032317.2:c.440C>G NP_115693.2:p.Thr147Ser
NM_032317.3:c.440C>G MANE Select NP_115693.2:p.Thr147Ser