Canonical Allele Identifier: CA367826675
Gene: DNAJC30 HGNC NCBI

Linked Data

ClinVar Variation Id: 3084580
ClinVar RCV Id: RCV004381443
dbSNP Id: rs1797765304
MyVariant Identifiers: chr7:g.73097350G>A (hg19) chr7:g.73683020G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683020G>A , CM000669.2:g.73683020G>A GRCh38
NC_000007.13:g.73097350G>A , CM000669.1:g.73097350G>A GRCh37
NC_000007.12:g.72735286G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.404C>T MANE Select ENSP00000378605.1:p.Pro135Leu
ENST00000395176.2:c.404C>T ENSP00000378605.1:p.Pro135Leu
NM_032317.2:c.404C>T NP_115693.2:p.Pro135Leu
NM_032317.3:c.404C>T MANE Select NP_115693.2:p.Pro135Leu
Search 100 bp 5'
Search 100 bp 3'