Canonical Allele Identifier: CA4289916
Gene: DNAJC30 HGNC NCBI

Linked Data

dbSNP Id: rs782609560
gnomAD v2: 7-73097314-G-T
gnomAD v4: 7-73682984-G-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.440C>A MANE Select ENSP00000378605.1:p.Thr147Asn
ENST00000395176.2:c.440C>A ENSP00000378605.1:p.Thr147Asn
NM_032317.2:c.440C>A NP_115693.2:p.Thr147Asn
NM_032317.3:c.440C>A MANE Select NP_115693.2:p.Thr147Asn