Canonical Allele Identifier: CA367826483

Gene: DNAJC30

Linked Data

• gnomAD v4: 7-73682984-G-C
• MyVariant Identifiers: chr7:g.73097314G>C (hg19) ; chr7:g.73682984G>C (hg38)

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