Canonical Allele Identifier: CA367826553

Gene: DNAJC30

Linked Data

• dbSNP Id: rs1554611633
• gnomAD v2: 7-73097326-G-A
• gnomAD v4: 7-73682996-G-A
• MyVariant Identifiers: chr7:g.73097326G>A (hg19) ; chr7:g.73682996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73682996G>A , CM000669.2:g.73682996G>A	GRCh38
NC_000007.13:g.73097326G>A , CM000669.1:g.73097326G>A	GRCh37
NC_000007.12:g.72735262G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.428C>T MANE Select	ENSP00000378605.1:p.Pro143Leu
ENST00000395176.2:c.428C>T	ENSP00000378605.1:p.Pro143Leu
NM_032317.2:c.428C>T	NP_115693.2:p.Pro143Leu
NM_032317.3:c.428C>T MANE Select	NP_115693.2:p.Pro143Leu