Canonical Allele Identifier: CA367826697
Gene: DNAJC30 HGNC NCBI

Linked Data

dbSNP Id: rs782120221
gnomAD v4: 7-73683024-C-G
MyVariant Identifiers: chr7:g.73097354C>G (hg19) chr7:g.73683024C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683024C>G , CM000669.2:g.73683024C>G GRCh38
NC_000007.13:g.73097354C>G , CM000669.1:g.73097354C>G GRCh37
NC_000007.12:g.72735290C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.400G>C MANE Select ENSP00000378605.1:p.Asp134His
ENST00000395176.2:c.400G>C ENSP00000378605.1:p.Asp134His
NM_032317.2:c.400G>C NP_115693.2:p.Asp134His
NM_032317.3:c.400G>C MANE Select NP_115693.2:p.Asp134His
Search 100 bp 5'
Search 100 bp 3'