Canonical Allele Identifier: CA367826553
Gene: DNAJC30 HGNC NCBI

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)
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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
Search 100 bp 5'
Search 100 bp 3'